#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ADORA3	140	broad.mit.edu	37	1	112033386	112033386	+	Splice_Site	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:112033386T>C	ENST00000369716.4	-	2	484		c.e2-2		RNU6-792P_ENST00000363490.1_RNA|ADORA3_ENST00000369717.4_Splice_Site	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor						activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATTCTGAATCTGTTTAAGGGA	0.448																																						ENST00000369716.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.e2-2		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						78.0	72.0	74.0					1																	112033386		2203	4300	6503	SO:0001630	splice_region_variant	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112033386T>C	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.351-2A>G	1.37:g.112033386T>C						ADORA3_ENST00000369717.4_Splice_Site		NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	484	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)						A2A3P4|Q6UWU0|Q9BYZ1	Splice_Site	SNP	ENST00000369716.4	37		CCDS838.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598438	0.28445	.	.	ENSG00000121933	ENST00000369717;ENST00000369716	.	.	.	3.49	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.718	0.34423	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADORA3	111834909	1.000000	0.71417	0.980000	0.43619	0.179000	0.23085	2.961000	0.49168	1.847000	0.53656	0.459000	0.35465	.		0.448	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683	Intron	6	255	0	0	0	1	0	6	255				
ZDHHC11	79844	broad.mit.edu	37	5	837564	837564	+	Silent	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:837564G>T	ENST00000283441.8	-	6	1199	c.816C>A	c.(814-816)ctC>ctA	p.L272L	ZDHHC11_ENST00000424784.2_Silent_p.L272L|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	272						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTTATTAATGAGATACTCAA	0.493																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(814-816)ctC>ctA		zinc finger, DHHC-type containing 11							171.0	199.0	189.0					5																	837564		2203	4300	6503	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:837564G>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.816C>A	5.37:g.837564G>T						ZDHHC11_ENST00000424784.2_Silent_p.L272L|ZDHHC11_ENST00000503758.2_5'UTR	p.L272L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		6	1199	-			272					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.816C>A	CCDS3857.1																																																																																				0.493	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		16	941	1	0	1.75199e-13	1	1.88839e-13	16	941				
NBPF9	400818	broad.mit.edu	37	1	144828652	144828652	+	Missense_Mutation	SNP	C	C	G	rs587753379	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:144828652C>G	ENST00000281815.8	+	13	1238	c.492C>G	c.(490-492)caC>caG	p.H164Q	NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.H566Q|NBPF9_ENST00000468645.1_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	824						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CATTCCAGCACTACAGAAGTG	0.453																																						ENST00000338347.4																			0				NS(2)|prostate(1)	3						c.(1696-1698)caC>caG		neuroblastoma breakpoint family, member 9							27.0	29.0	28.0					1																	144828652		692	1590	2282	SO:0001583	missense	400818							g.chr1:144828652C>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.492C>G	1.37:g.144828652C>G	ENSP00000281815:p.His164Gln					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.H164Q|NBPF9_ENST00000440491.2_3'UTR	p.H566Q							14	1698	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1698C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.268|3.268	-0.149784|-0.149784	0.06585|0.06585	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000338347;ENST00000281815|ENST00000375552	T;T|.	0.05996|.	3.36;3.36|.	0.618|0.618	-0.872|-0.872	0.10638|0.10638	.|.	.|.	.|.	.|.	.|.	T|T	0.09335|0.09335	0.0230|0.0230	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.31879|.	0.001;0.005;0.016;0.056;0.344|.	B;B;B;B;B|.	0.30316|.	0.002;0.023;0.06;0.062;0.114|.	T|T	0.36237|0.36237	-0.9756|-0.9756	7|3	0.48119|.	T|.	0.1|.	.|.	.|.	.|.	.|.	.|.	630;226;797;572;639|.	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.;.|.	Q|S	566;164|640	ENSP00000342975:H566Q;ENSP00000281815:H164Q|.	ENSP00000281815:H164Q|.	H|T	+|+	3|2	2|0	NBPF9|NBPF9	143540009|143540009	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.747000|-0.747000	0.04823|0.04823	-0.333000|-0.333000	0.08476|0.08476	0.194000|0.194000	0.17425|0.17425	CAC|ACT		0.453	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		6	1401	0	0	0	1	0	6	1401				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864001A>G																													13.37:g.52864001A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	151	0	0	0	1	0	4	151				
ZNF645	158506	broad.mit.edu	37	X	22292031	22292031	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:22292031C>T	ENST00000323684.1	+	1	967	c.923C>T	c.(922-924)tCg>tTg	p.S308L		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	308	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ACTCCTAACTCGGTTCGTAGC	0.448																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(922-924)tCg>tTg		zinc finger protein 645							136.0	104.0	115.0					X																	22292031		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22292031C>T	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.923C>T	X.37:g.22292031C>T	ENSP00000323348:p.Ser308Leu						p.S308L	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	967	+			308			Pro-rich.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.923C>T	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.552333	0.00918	.	.	ENSG00000175809	ENST00000323684	T	0.30182	1.54	2.42	-1.52	0.08637	.	0.974552	0.08262	N	0.972933	T	0.07773	0.0195	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34800	-0.9814	10	0.07030	T	0.85	.	6.635	0.22877	0.0:0.4115:0.0:0.5885	.	308	Q8N7E2	ZN645_HUMAN	L	308	ENSP00000323348:S308L	ENSP00000323348:S308L	S	+	2	0	ZNF645	22201952	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	2.686000	0.46968	-0.498000	0.06632	-0.366000	0.07423	TCG		0.448	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		26	631	0	0	0	1	0	26	631				
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			7	325	0	0	0	1	0	7	325				
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|SARS2_ENST00000594171.1_5'Flank|MRPS12_ENST00000402029.3_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(142-144)gCg>gTg		seryl-tRNA synthetase 2, mitochondrial							97.0	84.0	88.0					19																	39421234		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421234G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR	p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	302	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		48					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.143C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		6	825	0	0	0	1	0	6	825				
FRG1	2483	broad.mit.edu	37	4	190878658	190878658	+	Splice_Site	SNP	G	G	A	rs76810924		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:190878658G>A	ENST00000226798.4	+	6	759		c.e6+1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AATGATCAAGGTAATGATGAC	0.348																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.e6+1		FSHD region gene 1							47.0	43.0	44.0					4																	190878658		2169	4247	6416	SO:0001630	splice_region_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878658G>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.537+1G>A	4.37:g.190878658G>A						FRG1_ENST00000514482.1_Splice_Site		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	759	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)						A8K775	Splice_Site	SNP	ENST00000226798.4	37		CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	15.05	2.718286	0.48622	.	.	ENSG00000109536	ENST00000226798;ENST00000524583	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6226	0.62146	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191115652	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	9.554000	0.98121	1.860000	0.53959	0.454000	0.30748	.		0.348	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron	5	271	0	0	0	1	0	5	271				
GLYATL2	219970	broad.mit.edu	37	11	58605742	58605742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:58605742G>A	ENST00000287275.1	-	3	568	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Nonsense_Mutation_p.Q60*	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	60						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ACCTGTTTCTGAGGCCGGGTA	0.463																																						ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(178-180)Cag>Tag		glycine-N-acyltransferase-like 2	Glycine(DB00145)						93.0	91.0	92.0					11																	58605742		1945	4178	6123	SO:0001587	stop_gained	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58605742G>A	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.178C>T	11.37:g.58605742G>A	ENSP00000287275:p.Gln60*					GLYATL2_ENST00000532258.1_Nonsense_Mutation_p.Q60*|GLYATL2_ENST00000533636.1_5'UTR	p.Q60*	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			3	568	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	60					A5LGC7|Q86WC3|Q96AT2	Nonsense_Mutation	SNP	ENST00000287275.1	37	c.178C>T	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228702	0.58777	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	.	.	.	3.57	-4.02	0.04034	.	1.412690	0.05610	U	0.578009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.2632	0.20912	0.1013:0.0:0.2896:0.6091	.	.	.	.	X	60	.	ENSP00000287275:Q60X	Q	-	1	0	GLYATL2	58362318	0.003000	0.15002	0.002000	0.10522	0.060000	0.15804	-0.092000	0.11129	-0.712000	0.04988	-0.346000	0.07831	CAG		0.463	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		5	241	0	0	0	1	0	5	241				
FAM86A	196483	broad.mit.edu	37	16	5141882	5141882	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:5141882G>A	ENST00000427587.4	-	4	323	c.255C>T	c.(253-255)caC>caT	p.H85H	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	85						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AAGGCTCTGTGTGGACAGCCT	0.547																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(253-255)caC>caT		family with sequence similarity 86, member A							36.0	34.0	35.0					16																	5141882		2197	4300	6497	SO:0001819	synonymous_variant	196483							g.chr16:5141882G>A	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.255C>T	16.37:g.5141882G>A						FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Intron	p.H85H	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			4	323	-			85					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.255C>T	CCDS10529.1																																																																																				0.547	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		87	240	0	0	0	1	0	87	240				
TRBV6-9	28598	broad.mit.edu	37	7	142104148	142104148	+	RNA	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:142104148G>C	ENST00000390379.1	-	0	316									T cell receptor beta variable 6-9																		GAAGTATACAGATGTCTGGGA	0.537																																						ENST00000390379.1																			0																				153.0	157.0	155.0					7																	142104148		2132	4244	6376			0							g.chr7:142104148G>C	X61447		7q34	2012-02-07			ENSG00000211732			"""T cell receptors / TRB locus"""	12234	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV69, TCRBV13S4, TCRBV6S9			OTTHUMG00000158905		7.37:g.142104148G>C														0	316	-									RNA	SNP	ENST00000390379.1	37																																																																																						0.537	TRBV6-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352517.1	NG_001333		15	1104	0	0	0	1	0	15	1104				
NDC1	55706	broad.mit.edu	37	1	54269611	54269611	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:54269611G>A	ENST00000371429.3	-	10	1654	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	NDC1_ENST00000540001.1_Silent_p.L352L|NDC1_ENST00000234725.8_Silent_p.L237L|NDC1_ENST00000537333.1_Silent_p.L17L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	352					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										CTGGTTGGCTGAGGCTGAAAA	0.408																																						ENST00000371429.3																			0											c.(1054-1056)ctC>ctT		NDC1 transmembrane nucleoporin							181.0	184.0	183.0					1																	54269611		2203	4300	6503	SO:0001819	synonymous_variant	55706							g.chr1:54269611G>A	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1056C>T	1.37:g.54269611G>A						NDC1_ENST00000537333.1_Silent_p.L17L|NDC1_ENST00000540001.1_Silent_p.L352L|NDC1_ENST00000234725.8_Silent_p.L237L	p.L352L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					10	1654	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	ENST00000371429.3	37	c.1056C>T	CCDS583.1																																																																																				0.408	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		296	758	0	0	0	1	0	296	758				
MAGI1	9223	broad.mit.edu	37	3	65425585	65425585	+	Silent	SNP	C	C	T	rs374381483		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000330909.8_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58.0	58.0	58.0					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR	p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		6	452	0	0	0	1	0	6	452				
C7orf43	55262	broad.mit.edu	37	7	99755385	99755385	+	Splice_Site	SNP	T	T	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:99755385T>A	ENST00000316937.3	-	3	693	c.508A>T	c.(508-510)Att>Ttt	p.I170F	C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000457641.1_5'UTR|C7orf43_ENST00000419841.1_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	170										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCACTACAATCTGTCAAGAG	0.527											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.e3-1		chromosome 7 open reading frame 43							105.0	104.0	104.0					7																	99755385		2203	4300	6503	SO:0001630	splice_region_variant	55262							g.chr7:99755385T>A		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.508-1A>T	7.37:g.99755385T>A			OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1346	C7orf43_ENST00000457641.1_5'UTR	p.I170_splice	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			3	693	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		170					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Splice_Site	SNP	ENST00000316937.3	37	c.507_splice	CCDS5687.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.035638|4.035638	0.75617|0.75617	.|.	.|.	ENSG00000146826|ENSG00000146826	ENST00000456769|ENST00000316937	.|T	.|0.33216	.|1.42	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.072818	.|0.56097	.|D	.|0.000030	T|T	0.31544|0.31544	0.0800|0.0800	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.51866	.|0.682	T|T	0.10730|0.10730	-1.0617|-1.0617	5|10	.|0.72032	.|D	.|0.01	-9.3115|-9.3115	14.1012|14.1012	0.65056|0.65056	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|170	.|Q8WVR3	.|CG043_HUMAN	V|F	75|170	.|ENSP00000324741:I170F	.|ENSP00000324741:I170F	D|I	-|-	2|1	0|0	C7orf43|C7orf43	99593321|99593321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	3.517000|3.517000	0.53443|0.53443	2.217000|2.217000	0.71921|0.71921	0.379000|0.379000	0.24179|0.24179	GAT|ATT		0.527	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275	Missense_Mutation	172	564	0	0	0	1	0	172	564				
HTR5A	3361	broad.mit.edu	37	7	154862970	154862970	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:154862970G>A	ENST00000287907.2	+	1	937	c.361G>A	c.(361-363)Gac>Aac	p.D121N	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.S15L|HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.S15L	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	121					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.D121N(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GATCGCGTGCGACGTGCTTTG	0.672																																						ENST00000287907.2																			1	Substitution - Missense(1)	p.D121N(1)	endometrium(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(361-363)Gac>Aac		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							64.0	49.0	54.0					7																	154862970		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862970G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.361G>A	7.37:g.154862970G>A	ENSP00000287907:p.Asp121Asn					AC093726.4_ENST00000395731.2_Missense_Mutation_p.S15L|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Missense_Mutation_p.S15L	p.D121N	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	937	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	121					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.361G>A	CCDS5936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.834754|4.834754	0.91036|0.91036	.|.	.|.	ENSG00000157219|ENSG00000220575	ENST00000287907|ENST00000395731;ENST00000543018	T|.	0.37752|.	1.18|.	4.52|4.52	4.52|4.52	0.55395|0.55395	GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85978|0.85978	0.5823|0.5823	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.77557|0.87578	0.99|0.998	D|D	0.89946|0.89946	0.4076|0.4076	10|8	0.87932|0.87932	D|D	0|0	.|.	17.4477|17.4477	0.87583|0.87583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	121|15	P47898|B7Z8E6	5HT5A_HUMAN|.	N|L	121|15	ENSP00000287907:D121N|.	ENSP00000287907:D121N|ENSP00000379080:S15L	D|S	+|-	1|2	0|0	HTR5A|AC093726.4	154493903|154493903	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.629000|0.629000	0.37895|0.37895	7.411000|7.411000	0.80078|0.80078	2.338000|2.338000	0.79540|0.79540	0.563000|0.563000	0.77884|0.77884	GAC|TCG		0.672	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		19	271	0	0	0	1	0	19	271				
MLLT4	4301	broad.mit.edu	37	6	168226777	168226777	+	5'Flank	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:168226777G>A	ENST00000447894.2	+	0	0				MLLT4_ENST00000400822.3_5'Flank|MLLT4_ENST00000351017.4_5'Flank|MLLT4_ENST00000392112.1_5'Flank|MLLT4_ENST00000344191.4_5'Flank|MLLT4_ENST00000392108.3_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA|MLLT4_ENST00000366806.2_5'Flank			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTCCGAACCGAACCTAGCAC	0.682			T	MLL	AL																																	ENST00000359760.5				Dom	yes		6	6q27	4301		"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L					0																				61.0	80.0	74.0					6																	168226777		1993	4136	6129	SO:0001631	upstream_gene_variant	0							g.chr6:168226777G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168226777G>A	Exception_encountered							NR_027906.1						0	612	-								O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	ENST00000447894.2	37																																																																																						0.682	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		6	651	0	0	0	1	0	6	651				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	165	0	0	0	1	0	5	165				
GNB1	2782	broad.mit.edu	37	1	1722012	1722012	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:1722012C>T	ENST00000378609.4	-	9	852	c.521G>A	c.(520-522)gGc>gAc	p.G174D		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	174					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CGTCTGCTGGCCGGTCTCGAT	0.542																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(520-522)gGc>gAc		guanine nucleotide binding protein (G protein), beta polypeptide 1							113.0	83.0	93.0					1																	1722012		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1722012C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.521G>A	1.37:g.1722012C>T	ENSP00000367872:p.Gly174Asp						p.G174D	NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	852	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	174					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.521G>A	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.753994|4.753994	0.89843|0.89843	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000424622|ENST00000378609;ENST00000455156;ENST00000378606	.|T	.|0.01613	.|4.73	5.11|5.11	5.11|5.11	0.69529|0.69529	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.11024|0.11024	0.0269|0.0269	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|D	.|0.66351	.|0.943	T|T	0.00353|0.00353	-1.1795|-1.1795	5|10	.|0.87932	.|D	.|0	-24.5913|-24.5913	17.5387|17.5387	0.87841|0.87841	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|174	.|P62873	.|GBB1_HUMAN	T|D	32|174;74;174	.|ENSP00000367872:G174D	.|ENSP00000367869:G174D	A|G	-|-	1|2	0|0	GNB1|GNB1	1711872|1711872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.586000|7.586000	0.82596|0.82596	2.374000|2.374000	0.81015|0.81015	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.542	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		9	188	0	0	0	1	0	9	188				
GLI3	2737	broad.mit.edu	37	7	42018283	42018283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:42018283G>T	ENST00000395925.3	-	11	1646	c.1562C>A	c.(1561-1563)tCa>tAa	p.S521*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	521					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGCTCTCTTGAGCAGTCCAG	0.453									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1561-1563)tCa>tAa		GLI family zinc finger 3							109.0	101.0	104.0					7																	42018283		2203	4300	6503	SO:0001587	stop_gained	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42018283G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1562C>A	7.37:g.42018283G>T	ENSP00000379258:p.Ser521*					GLI3_ENST00000479210.1_5'UTR	p.S521*	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			11	1646	-			521					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Nonsense_Mutation	SNP	ENST00000395925.3	37	c.1562C>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	41	8.584889	0.98872	.	.	ENSG00000106571	ENST00000395925	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	.	.	.	X	521	.	ENSP00000379258:S521X	S	-	2	0	GLI3	41984808	1.000000	0.71417	0.965000	0.40720	0.998000	0.95712	7.817000	0.86213	2.763000	0.94921	0.650000	0.86243	TCA		0.453	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		154	276	1	0	1.34836e-70	1	1.49705e-70	154	276				
CLCN4	1183	broad.mit.edu	37	X	10176320	10176320	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:10176320G>A	ENST00000380833.4	+	9	1470	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	CLCN4_ENST00000421085.2_Missense_Mutation_p.R266H|CLCN4_ENST00000380829.1_Missense_Mutation_p.R329H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	360					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCAGGAGGCGCAAGACCACC	0.597																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1078-1080)cGc>cAc		chloride channel, voltage-sensitive 4							107.0	102.0	104.0					X																	10176320		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176320G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1079G>A	X.37:g.10176320G>A	ENSP00000370213:p.Arg360His					CLCN4_ENST00000421085.2_Missense_Mutation_p.R266H|CLCN4_ENST00000380829.1_Missense_Mutation_p.R329H	p.R360H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			9	1470	+			360					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1079G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	33	5.290835	0.95546	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94650	-3.48;-3.46;-3.48	5.71	5.71	0.89125	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99449	1.0940	10	0.87932	D	0	-28.1314	18.9991	0.92826	0.0:0.0:1.0:0.0	.	360	P51793	CLCN4_HUMAN	H	360;329;266	ENSP00000370213:R360H;ENSP00000370209:R329H;ENSP00000405754:R266H	ENSP00000370209:R329H	R	+	2	0	CLCN4	10136320	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	9.664000	0.98607	2.436000	0.82500	0.592000	0.82586	CGC		0.597	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			7	1066	0	0	0	1	0	7	1066				
CDH16	1014	broad.mit.edu	37	16	66944181	66944181	+	Missense_Mutation	SNP	G	G	A	rs140255974		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:66944181G>A	ENST00000299752.4	-	15	2342	c.2149C>T	c.(2149-2151)Cgc>Tgc	p.R717C	CDH16_ENST00000565796.1_Missense_Mutation_p.R678C|CDH16_ENST00000570262.1_Missense_Mutation_p.R637C|CDH16_ENST00000394055.3_Missense_Mutation_p.R695C|CDH16_ENST00000568632.1_Missense_Mutation_p.R620C	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	717	Ectodomain G.		R -> H (in dbSNP:rs34621310).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R717C(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCTGGAGGCGCCAATCCCGT	0.612																																						ENST00000299752.4																			1	Substitution - Missense(1)	p.R717C(1)	urinary_tract(1)	endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2149-2151)Cgc>Tgc		cadherin 16, KSP-cadherin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	81.0	80.0	81.0		2083,2032,1858,2149	3.9	1.0	16	dbSNP_134	81	0,8600		0,0,4300	no	missense,missense,missense,missense	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	180,180,180,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	695/808,678/791,620/733,717/830	66944181	1,12999	2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66944181G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2149C>T	16.37:g.66944181G>A	ENSP00000299752:p.Arg717Cys					CDH16_ENST00000565796.1_Missense_Mutation_p.R678C|CDH16_ENST00000568632.1_Missense_Mutation_p.R620C|CDH16_ENST00000394055.3_Missense_Mutation_p.R695C|CDH16_ENST00000570262.1_Missense_Mutation_p.R637C	p.R717C	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	15	2342	-		Ovarian(137;0.0563)	717		R -> H (in dbSNP:rs34621310).	Ectodomain G.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.2149C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688609	0.68271	2.27E-4	0.0	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.56941	0.43;0.43	4.9	3.88	0.44766	.	0.130718	0.46145	D	0.000306	T	0.62768	0.2455	L	0.60455	1.87	0.49798	D	0.999825	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.66847	0.947;0.828;0.72	T	0.59847	-0.7377	10	0.38643	T	0.18	-8.2033	9.5158	0.39104	0.0:0.0:0.7746:0.2254	.	695;717;717	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	C	695;717;681	ENSP00000377619:R695C;ENSP00000299752:R717C	ENSP00000299752:R717C	R	-	1	0	CDH16	65501682	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.640000	0.46579	2.571000	0.86741	0.561000	0.74099	CGC		0.612	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		5	472	0	0	0	1	0	5	472				
PARD3B	117583	broad.mit.edu	37	2	206166502	206166502	+	Intron	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:206166502G>A	ENST00000406610.2	+	18	2837				PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000462231.1_Splice_Site|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCTGTACTCAGAAAAAAGCGC	0.488																																						ENST00000462231.1																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.e19-1		par-3 family cell polarity regulator beta																																				SO:0001627	intron_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206166502G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2630+77G>A	2.37:g.206166502G>A						PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000351153.1_Intron				Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	19	2839	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)						E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Splice_Site	SNP	ENST00000406610.2	37																																																																																						0.488	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		73	187	0	0	0	1	0	73	187				
LRFN3	79414	broad.mit.edu	37	19	36430810	36430810	+	Silent	SNP	C	C	T	rs539548293		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36430810C>T	ENST00000588831.1	+	3	1537	c.483C>T	c.(481-483)ctC>ctT	p.L161L	LRFN3_ENST00000246529.3_Silent_p.L161L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	161					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGAGGACCTCGACCTCTCCT	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		14167	0.0		0.0	False		,,,				2504	0.001					ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(481-483)ctC>ctT		leucine rich repeat and fibronectin type III domain containing 3							53.0	50.0	51.0					19																	36430810		2202	4297	6499	SO:0001819	synonymous_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430810C>T	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.483C>T	19.37:g.36430810C>T						LRFN3_ENST00000246529.3_Silent_p.L161L	p.L161L			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1537	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		161					Q6UY10	Silent	SNP	ENST00000588831.1	37	c.483C>T	CCDS12483.1																																																																																				0.657	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		8	617	0	0	0	1	0	8	617				
NLRP5	126206	broad.mit.edu	37	19	56538857	56538857	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:56538857G>A	ENST00000390649.3	+	7	1258	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	420	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTCAAGTCAGAGGTCGTGTC	0.547																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1258-1260)Gag>Aag		NLR family, pyrin domain containing 5							48.0	50.0	49.0					19																	56538857		2085	4205	6290	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538857G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1258G>A	19.37:g.56538857G>A	ENSP00000375063:p.Glu420Lys						p.E420K	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1258	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	420			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1258G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	8.718	0.913767	0.17907	.	.	ENSG00000171487	ENST00000390649	T	0.78003	-1.14	3.35	-6.7	0.01766	.	2.074330	0.02664	N	0.107849	T	0.55847	0.1946	N	0.04508	-0.205	0.09310	N	1	B	0.24092	0.097	B	0.33568	0.166	T	0.54596	-0.8270	10	0.48119	T	0.1	.	2.0967	0.03669	0.2778:0.3996:0.1358:0.1869	.	420	P59047	NALP5_HUMAN	K	420	ENSP00000375063:E420K	ENSP00000375063:E420K	E	+	1	0	NLRP5	61230669	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.837000	0.01689	-3.908000	0.00092	-0.967000	0.02615	GAG		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		6	145	0	0	0	1	0	6	145				
TRO	7216	broad.mit.edu	37	X	54956406	54956406	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:54956406C>T	ENST00000173898.7	+	12	3361	c.3249C>T	c.(3247-3249)gtC>gtT	p.V1083V	TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Silent_p.V614V|TRO_ENST00000375041.2_Silent_p.V686V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1083	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTGGTGCTGTCAGCACCAGTG	0.592																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(3247-3249)gtC>gtT		trophinin							29.0	28.0	28.0					X																	54956406		2049	4175	6224	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54956406C>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3249C>T	X.37:g.54956406C>T						TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.V614V|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.V686V	p.V1083V	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	3361	+			1083			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.3249C>T	CCDS43959.1																																																																																				0.592	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		10	261	0	0	0	1	0	10	261				
LOXL1	4016	broad.mit.edu	37	15	74239478	74239478	+	Missense_Mutation	SNP	G	G	A	rs141057976		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:74239478G>A	ENST00000261921.7	+	4	1746	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	474	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GAAGGTGGCCGAGGGCCACAA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		22874	0.0		0.001	False		,,,				2504	0.0					ENST00000261921.7																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1420-1422)Gag>Aag		lysyl oxidase-like 1		G	LYS/GLU	0,4396		0,0,2198	73.0	65.0	68.0		1420	4.8	1.0	15	dbSNP_134	68	1,8593	1.2+/-3.3	0,1,4296	no	missense	LOXL1	NM_005576.2	56	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	474/575	74239478	1,12989	2198	4297	6495	SO:0001583	missense	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74239478G>A	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1420G>A	15.37:g.74239478G>A	ENSP00000261921:p.Glu474Lys						p.E474K	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN			4	1746	+			474			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	c.1420G>A	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372594	0.95923	0.0	1.16E-4	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.40225	1.04	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79940	-0.1591	10	0.87932	D	0	.	16.4684	0.84092	0.0:0.0:1.0:0.0	.	474	Q08397	LOXL1_HUMAN	K	474;336	ENSP00000261921:E474K	ENSP00000261921:E474K	E	+	1	0	LOXL1	72026531	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.569000	0.98170	2.222000	0.72286	0.462000	0.41574	GAG		0.577	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		53	224	0	0	0	1	0	53	224				
KCNF1	3754	broad.mit.edu	37	2	11053448	11053448	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:11053448G>A	ENST00000295082.1	+	1	1386	c.896G>A	c.(895-897)cGc>cAc	p.R299H		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	299					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGCATCGCGCGCATCTTCAAG	0.642																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(895-897)cGc>cAc		potassium voltage-gated channel, subfamily F, member 1							51.0	48.0	49.0					2																	11053448		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053448G>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.896G>A	2.37:g.11053448G>A	ENSP00000295082:p.Arg299His						p.R299H	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1386	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		299					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.896G>A	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.552813	0.86127	.	.	ENSG00000162975	ENST00000295082	D	0.99591	-6.24	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	D	0.97604	1.0125	10	0.87932	D	0	.	18.1029	0.89512	0.0:0.0:1.0:0.0	.	299	Q9H3M0	KCNF1_HUMAN	H	299	ENSP00000295082:R299H	ENSP00000295082:R299H	R	+	2	0	KCNF1	10970899	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.797000	0.99108	2.348000	0.79779	0.556000	0.70494	CGC		0.642	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		4	171	0	0	0	1	0	4	171				
JAK1	3716	broad.mit.edu	37	1	65310517	65310517	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:65310517C>T	ENST00000342505.4	-	16	2419	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	724	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GATGCCCTCACGGGCCAGGAG	0.542			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2170-2172)cGt>cAt		Janus kinase 1							97.0	111.0	107.0					1																	65310517		2091	4208	6299	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65310517C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2171G>A	1.37:g.65310517C>T	ENSP00000343204:p.Arg724His					JAK1_ENST00000465376.1_5'UTR	p.R724H	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	16	2419	-			724			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2171G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762736	0.89932	.	.	ENSG00000162434	ENST00000342505	D	0.82893	-1.66	5.0	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87509	0.6195	M	0.71036	2.16	0.51767	D	0.999936	D	0.89917	1.0	D	0.91635	0.999	D	0.89235	0.3580	9	0.72032	D	0.01	-5.0492	13.6915	0.62549	0.0:0.9256:0.0:0.0744	.	724	P23458	JAK1_HUMAN	H	724	ENSP00000343204:R724H	ENSP00000343204:R724H	R	-	2	0	JAK1	65083105	1.000000	0.71417	0.864000	0.33941	0.849000	0.48306	7.239000	0.78182	1.347000	0.45714	0.563000	0.77884	CGT		0.542	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		15	313	0	0	0	1	0	15	313				
C5orf64	285668	broad.mit.edu	37	5	60982782	60982782	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:60982782G>A	ENST00000505642.1	+	3	185	c.110G>A	c.(109-111)cGc>cAc	p.R37H	RP11-2O17.2_ENST00000513386.1_RNA|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000510414.1_Intron|C5orf64_ENST00000313303.7_Missense_Mutation_p.R37H|RP11-2O17.2_ENST00000507264.1_RNA	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	37						extracellular region (GO:0005576)				breast(1)	1						AAATTGCCCCGCACTGCGATA	0.438																																						ENST00000505642.1																			0				breast(1)	1						c.(109-111)cGc>cAc		chromosome 5 open reading frame 64							155.0	146.0	149.0					5																	60982782		1922	4146	6068	SO:0001583	missense	285668					extracellular region		g.chr5:60982782G>A		CCDS54860.1	5q12.1	2014-02-12	2011-05-05		ENSG00000178722	ENSG00000178722			26744	protein-coding gene	gene with protein product							Standard	NM_173667		Approved	FLJ37543	uc003jst.1	Q2M2E5	OTTHUMG00000162412	ENST00000505642.1:c.110G>A	5.37:g.60982782G>A	ENSP00000423157:p.Arg37His					RP11-2O17.2_ENST00000513386.1_RNA|C5orf64_ENST00000313303.7_Missense_Mutation_p.R37H|RP11-2O17.2_ENST00000507264.1_RNA|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000510414.1_Intron	p.R37H	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN			3	185	+			37					Q2M2H1|Q8N1U8	Missense_Mutation	SNP	ENST00000505642.1	37	c.110G>A	CCDS54860.1	.	.	.	.	.	.	.	.	.	.	G	0.058	-1.230594	0.01518	.	.	ENSG00000178722	ENST00000505642;ENST00000313303	T;T	0.39787	1.06;1.06	5.03	-1.91	0.07641	.	1.942700	0.03040	N	0.153165	T	0.23688	0.0573	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12116	-1.0560	10	0.51188	T	0.08	.	1.5518	0.02576	0.4749:0.173:0.1662:0.1858	.	37	Q2M2E5	CE064_HUMAN	H	37	ENSP00000423157:R37H;ENSP00000318395:R37H	ENSP00000318395:R37H	R	+	2	0	C5orf64	61018539	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.865000	0.01649	-0.678000	0.05224	-0.700000	0.03674	CGC		0.438	C5orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368790.1	NM_173667		5	417	0	0	0	1	0	5	417				
GLI3	2737	broad.mit.edu	37	7	42005168	42005168	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:42005168C>T	ENST00000395925.3	-	15	3587	c.3503G>A	c.(3502-3504)gGa>gAa	p.G1168E	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1168					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTCGGCGCTTCCGGAGCTGAC	0.667									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112	GRCh37	CD991736	GLI3	D		c.(3502-3504)gGa>gAa		GLI family zinc finger 3							87.0	103.0	97.0					7																	42005168		2201	4296	6497	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005168C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3503G>A	7.37:g.42005168C>T	ENSP00000379258:p.Gly1168Glu					GLI3_ENST00000479210.1_5'UTR	p.G1168E	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3587	-			1168					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3503G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238133	0.79800	.	.	ENSG00000106571	ENST00000395925	T	0.63913	-0.07	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77747	-0.2472	10	0.66056	D	0.02	.	19.7785	0.96405	0.0:1.0:0.0:0.0	.	1168	P10071	GLI3_HUMAN	E	1168	ENSP00000379258:G1168E	ENSP00000379258:G1168E	G	-	2	0	GLI3	41971693	1.000000	0.71417	0.165000	0.22776	0.504000	0.33889	7.759000	0.85235	2.667000	0.90743	0.563000	0.77884	GGA		0.667	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		8	1072	0	0	0	1	0	8	1072				
NBPF3	84224	broad.mit.edu	37	1	21799978	21799978	+	Silent	SNP	C	C	T	rs143299774		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:21799978C>T	ENST00000318249.5	+	7	1190	c.840C>T	c.(838-840)taC>taT	p.Y280Y	NBPF3_ENST00000318220.6_Silent_p.Y224Y|NBPF3_ENST00000342104.5_Silent_p.Y280Y|NBPF3_ENST00000454000.2_Silent_p.Y210Y	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	280	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCAGCCTTACGGGAACACCA	0.483																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(670-672)taC>taT		neuroblastoma breakpoint family, member 3		C		1,4405		0,1,2202	239.0	219.0	226.0		840	-0.1	0.0	1	dbSNP_134	226	0,8600		0,0,4300	no	coding-synonymous	NBPF3	NM_032264.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		280/634	21799978	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21799978C>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.840C>T	1.37:g.21799978C>T						NBPF3_ENST00000342104.5_Silent_p.Y280Y|NBPF3_ENST00000318249.5_Silent_p.Y280Y|NBPF3_ENST00000454000.2_Silent_p.Y210Y	p.Y224Y			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	10	1720	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	280			NBPF 1.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.672C>T	CCDS216.1																																																																																				0.483	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		7	1096	0	0	0	1	0	7	1096				
B4GALNT3	283358	broad.mit.edu	37	12	675233	675233	+	IGR	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:675233G>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000305108.4_Missense_Mutation_p.R95W|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000433832.2_Missense_Mutation_p.R13W|NINJ2_ENST00000542920.1_Missense_Mutation_p.R13W|NINJ2_ENST00000397265.3_Missense_Mutation_p.R42W	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCCTTCAGCCGCATGGCGTTG	0.612																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(283-285)Cgg>Tgg		ninjurin 2							142.0	97.0	112.0					12																	675233		2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:675233G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675233G>A						NINJ2_ENST00000397265.3_Missense_Mutation_p.R42W|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000542920.1_Missense_Mutation_p.R13W|NINJ2_ENST00000433832.2_Missense_Mutation_p.R13W	p.R95W	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		2	563	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		49					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.283C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070728	0.93950	.	.	ENSG00000171840	ENST00000305108;ENST00000397265;ENST00000542920;ENST00000433832	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.83	4.83	0.62350	.	0.237952	0.36628	N	0.002481	T	0.56485	0.1988	L	0.40543	1.245	0.53688	D	0.999977	D;D	0.89917	1.0;0.999	D;P	0.69654	0.965;0.877	T	0.61163	-0.7118	10	0.87932	D	0	-11.7848	17.9351	0.89010	0.0:0.0:1.0:0.0	.	95;49	B4DJC1;Q9NZG7	.;NINJ2_HUMAN	W	95;42;13;13	ENSP00000307552:R95W;ENSP00000380435:R42W;ENSP00000438831:R13W;ENSP00000415158:R13W	ENSP00000307552:R95W	R	-	1	2	NINJ2	545494	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.396000	0.73234	2.213000	0.71641	0.491000	0.48974	CGG		0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		5	275	0	0	0	1	0	5	275				
NXT2	55916	broad.mit.edu	37	X	108780167	108780167	+	5'UTR	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:108780167C>T	ENST00000372106.1	+	0	63				NXT2_ENST00000372103.1_5'Flank|NXT2_ENST00000218004.1_Splice_Site_p.P33S|NXT2_ENST00000372107.1_5'UTR	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2						mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ATTCCGCAGCCCTGCGGACCG	0.572																																						ENST00000218004.1																			0				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						c.e2-1		nuclear transport factor 2-like export factor 2							73.0	54.0	60.0					X																	108780167		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55916				mRNA transport|protein transport	cytoplasm|nucleus		g.chrX:108780167C>T	AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.-69C>T	X.37:g.108780167C>T						NXT2_ENST00000372107.1_5'UTR|NXT2_ENST00000372106.1_5'UTR	p.P33_splice	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN			2	199	+			0			NTF2.		D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Splice_Site	SNP	ENST00000372106.1	37	c.95_splice	CCDS56605.1	.	.	.	.	.	.	.	.	.	.	C	5.125	0.208764	0.09757	.	.	ENSG00000101888	ENST00000218004	.	.	.	4.69	-1.18	0.09617	.	3.984890	0.00589	N	0.000344	T	0.14141	0.0342	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.12967	-1.0527	8	0.06365	T	0.9	.	2.1255	0.03737	0.1267:0.4115:0.1228:0.339	.	33	Q9NPJ8-3	.	S	33	.	ENSP00000218004:P33S	P	+	1	0	NXT2	108666823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.403000	0.02497	-0.751000	0.04734	-0.905000	0.02835	CCT		0.572	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057886.1	NM_018698		17	133	0	0	0	1	0	17	133				
AOC2	314	broad.mit.edu	37	17	40997985	40997985	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:40997985G>A	ENST00000253799.3	+	1	1369	c.1342G>A	c.(1342-1344)Ggt>Agt	p.G448S	AOC2_ENST00000452774.2_Missense_Mutation_p.G448S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	448					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTTCTATGGTGGTTTGGCCAG	0.517																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(1342-1344)Ggt>Agt		amine oxidase, copper containing 2 (retina-specific)							123.0	114.0	117.0					17																	40997985		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997985G>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1342G>A	17.37:g.40997985G>A	ENSP00000253799:p.Gly448Ser					AOC2_ENST00000452774.2_Missense_Mutation_p.G448S	p.G448S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1369	+		Breast(137;0.000143)	448					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.1342G>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767027	0.49574	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03580	3.88;3.88	5.46	4.5	0.54988	Copper amine oxidase, C-terminal (3);	0.056784	0.64402	D	0.000001	T	0.15262	0.0368	M	0.82630	2.6	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.81914	0.995;0.987	T	0.34179	-0.9839	10	0.05351	T	0.99	-21.9121	14.1903	0.65635	0.0723:0.0:0.9277:0.0	.	448;448	O75106;O75106-2	AOC2_HUMAN;.	S	448	ENSP00000253799:G448S;ENSP00000406134:G448S	ENSP00000253799:G448S	G	+	1	0	AOC2	38251511	1.000000	0.71417	0.968000	0.41197	0.044000	0.14063	9.556000	0.98127	1.308000	0.44962	-0.229000	0.12294	GGT		0.517	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		147	327	0	0	0	1	0	147	327				
COL3A1	1281	broad.mit.edu	37	2	189868505	189868505	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:189868505G>A	ENST00000304636.3	+	38	2823	c.2653G>A	c.(2653-2655)Ggt>Agt	p.G885S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	885	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TGGTCCTCCTGGTAGTAATGT	0.363																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2653-2655)Ggt>Agt		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						136.0	132.0	133.0					2																	189868505		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868505G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2653G>A	2.37:g.189868505G>A	ENSP00000304408:p.Gly885Ser					COL3A1_ENST00000317840.5_Intron	p.G885S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		38	2823	+			885			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2653G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087492	0.76642	.	.	ENSG00000168542	ENST00000304636	D	0.99607	-6.27	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000071	D	0.99718	0.9891	H	0.97077	3.935	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	D	0.97479	1.0046	10	0.87932	D	0	.	13.6693	0.62416	0.0738:0.0:0.9262:0.0	.	885	P02461	CO3A1_HUMAN	S	885	ENSP00000304408:G885S	ENSP00000304408:G885S	G	+	1	0	COL3A1	189576750	1.000000	0.71417	0.983000	0.44433	0.893000	0.52053	7.914000	0.87478	2.590000	0.87494	0.551000	0.68910	GGT		0.363	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		14	376	0	0	0	1	0	14	376				
GDI2	2665	broad.mit.edu	37	10	5810230	5810230	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:5810230C>T	ENST00000380191.4	-	8	1227	c.937G>A	c.(937-939)Gat>Aat	p.D313N	GDI2_ENST00000380132.4_Missense_Mutation_p.D317N|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.D268N	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	313					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GAGTTGGCATCATTGGTGTTC	0.453																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(937-939)Gat>Aat		GDP dissociation inhibitor 2							141.0	134.0	137.0					10																	5810230		2203	4297	6500	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5810230C>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.937G>A	10.37:g.5810230C>T	ENSP00000369538:p.Asp313Asn					GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.D317N|GDI2_ENST00000380181.3_Missense_Mutation_p.D268N	p.D313N	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			8	1227	-			313					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.937G>A	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583007	0.46006	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.84	5.84	0.93424	.	0.042131	0.85682	D	0.000000	T	0.81079	0.4748	N	0.17922	0.545	0.80722	D	1	B;B;B	0.14805	0.001;0.011;0.0	B;B;B	0.24269	0.012;0.052;0.008	T	0.73675	-0.3908	10	0.22109	T	0.4	-34.1661	19.7341	0.96195	0.0:1.0:0.0:0.0	.	317;268;313	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	N	313;146;141;317;268	ENSP00000369538:D313N;ENSP00000387565:D141N;ENSP00000369475:D317N;ENSP00000369528:D268N	ENSP00000369475:D317N	D	-	1	0	GDI2	5850236	1.000000	0.71417	0.969000	0.41365	0.856000	0.48823	6.019000	0.70818	2.764000	0.94973	0.655000	0.94253	GAT		0.453	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		94	358	0	0	0	1	0	94	358				
ABLIM1	3983	broad.mit.edu	37	10	116331054	116331054	+	Splice_Site	SNP	A	A	C	rs573606552	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:116331054A>C	ENST00000277895.5	-	4	771		c.e4+1		ABLIM1_ENST00000533213.2_Splice_Site|ABLIM1_ENST00000369252.4_Splice_Site	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1						axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CGGGGCACTTACTGCTGGAGA	0.527																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.e4+1		actin binding LIM protein 1							131.0	127.0	128.0					10																	116331054		2203	4300	6503	SO:0001630	splice_region_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116331054A>C	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.673+1T>G	10.37:g.116331054A>C						ABLIM1_ENST00000277895.5_Splice_Site|ABLIM1_ENST00000533213.2_Splice_Site		NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	4	795	-		Colorectal(252;0.0373)|Breast(234;0.231)						A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Splice_Site	SNP	ENST00000277895.5	37		CCDS7590.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702615	0.88924	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392955;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0319	0.71713	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABLIM1	116321044	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.069000	0.93967	2.288000	0.76882	0.533000	0.62120	.		0.527	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		Intron	76	337	0	0	0	1	0	76	337				
OR5K4	403278	broad.mit.edu	37	3	98073078	98073078	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:98073078C>T	ENST00000354924.2	+	1	381	c.381C>T	c.(379-381)tgC>tgT	p.C127C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TGGCCATATGCCACCCACTGC	0.478																																						ENST00000354924.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(379-381)tgC>tgT		olfactory receptor, family 5, subfamily K, member 4							157.0	154.0	155.0					3																	98073078		2203	4300	6503	SO:0001819	synonymous_variant	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073078C>T		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.381C>T	3.37:g.98073078C>T						RP11-325B23.2_ENST00000508616.1_lincRNA	p.C127C	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN			1	381	+			127						Silent	SNP	ENST00000354924.2	37	c.381C>T	CCDS33802.1																																																																																				0.478	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			7	935	0	0	0	1	0	7	935				
HIST1H2AL	8332	broad.mit.edu	37	6	27833264	27833264	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:27833264C>T	ENST00000357320.2	+	1	231	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	44						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CTGAGCGGGTCGGGGCCGGCG	0.692																																						ENST00000357320.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						c.(130-132)gtC>gtT		histone cluster 1, H2al							46.0	54.0	52.0					6																	27833264		2202	4299	6501	SO:0001819	synonymous_variant	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833264C>T	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.132C>T	6.37:g.27833264C>T							p.V44V	NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN			1	231	+			44					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000357320.2	37	c.132C>T	CCDS4634.1																																																																																				0.692	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		31	507	0	0	0	1	0	31	507				
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	T41A(CCK81_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	681	Substitution - Missense(559)|Deletion - In frame(96)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	soft_tissue(387)|liver(158)|large_intestine(61)|endometrium(17)|kidney(11)|stomach(8)|biliary_tract(7)|ovary(6)|small_intestine(4)|lung(4)|prostate(4)|adrenal_gland(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|salivary_gland(1)|pituitary(1)|pancreas(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(121-123)Acc>Gcc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						89.0	77.0	81.0					3																	41266124		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266124A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.121A>G	3.37:g.41266124A>G	ENSP00000344456:p.Thr41Ala					CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A	p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	401	+			41		T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.121A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449381	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79258	2.445	0.80722	D	1	P	0.50943	0.94	P	0.52267	0.694	T	0.68561	-0.5376	10	0.87932	D	0	-8.9189	16.3453	0.83126	1.0:0.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	A	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34A;ENSP00000385604:T41A;ENSP00000412219:T41A;ENSP00000379486:T41A;ENSP00000344456:T41A;ENSP00000411226:T34A;ENSP00000379488:T41A;ENSP00000409302:T41A;ENSP00000401599:T41A	ENSP00000344456:T41A	T	+	1	0	CTNNB1	41241128	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ACC		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		106	114	0	0	0	1	0	106	114				
PCLO	27445	broad.mit.edu	37	7	82784468	82784468	+	Missense_Mutation	SNP	C	C	T	rs201660744	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:82784468C>T	ENST00000333891.9	-	2	1826	c.1489G>A	c.(1489-1491)Gca>Aca	p.A497T	PCLO_ENST00000423517.2_Missense_Mutation_p.A497T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGGCTTTGCTGAGCCAGGC	0.612													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		12144	0.0		0.0	False		,,,				2504	0.0					ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1489-1491)Gca>Aca		piccolo presynaptic cytomatrix protein							92.0	100.0	97.0					7																	82784468		1946	4135	6081	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784468C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1489G>A	7.37:g.82784468C>T	ENSP00000334319:p.Ala497Thr					PCLO_ENST00000333891.8_Missense_Mutation_p.A497T	p.A497T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1826	-			443			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1489G>A	CCDS47630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.192|7.192	0.591653|0.591653	0.13812|0.13812	.|.	.|.	ENSG00000186472|ENSG00000186472	ENST00000431819|ENST00000333891;ENST00000423517	.|T;T	.|0.16324	.|2.35;2.36	4.64|4.64	1.63|1.63	0.23807|0.23807	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10121	.|0.0248	N|N	0.16656|0.16656	0.425|0.425	0.22639|0.22639	N|N	0.998905|0.998905	.|B;B	.|0.23806	.|0.091;0.091	.|B;B	.|0.22386	.|0.039;0.039	.|T	.|0.29181	.|-1.0020	.|9	.|0.87932	.|D	.|0	.|.	5.9415|5.9415	0.19196|0.19196	0.2522:0.5969:0.0:0.1508|0.2522:0.5969:0.0:0.1508	.|.	.|497;497	.|Q9Y6V0-5;Q9Y6V0-6	.|.;.	.|T	-1|497	.|ENSP00000334319:A497T;ENSP00000388393:A497T	.|ENSP00000334319:A497T	.|A	-|-	.|1	.|0	PCLO|PCLO	82622404|82622404	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.096000|0.096000	0.18686|0.18686	-0.716000|-0.716000	0.04991|0.04991	0.508000|0.508000	0.28173|0.28173	-0.224000|-0.224000	0.12420|0.12420	.|GCA		0.612	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	1250	0	0	0	1	0	13	1250				
NCKAP5	344148	broad.mit.edu	37	2	133887563	133887563	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:133887563G>T	ENST00000409261.1	-	6	701	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q110K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q110K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q110K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	110										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGAACTGCTGCTGCAAGCTA	0.488																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(328-330)Cag>Aag		NCK-associated protein 5							91.0	91.0	91.0					2																	133887563		2010	4181	6191	SO:0001583	missense	344148						protein binding	g.chr2:133887563G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.328C>A	2.37:g.133887563G>T	ENSP00000387128:p.Gln110Lys					NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q110K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q110K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q110K	p.Q110K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			6	701	-			110					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.328C>A	CCDS46418.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.909250|2.909250	0.52439|0.52439	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834|ENST00000427594	T;T;T;T|.	0.44083|.	2.93;0.93;2.93;0.93|.	6.17|6.17	2.06|2.06	0.26882|0.26882	.|.	.|.	.|.	.|.	.|.	T|T	0.22513|0.22513	0.0543|0.0543	N|N	0.24115|0.24115	0.695|0.695	0.23120|0.23120	N|N	0.998262|0.998262	B;B;B;B|.	0.29988|.	0.017;0.082;0.264;0.242|.	B;B;B;B|.	0.31101|.	0.031;0.032;0.124;0.055|.	T|T	0.21793|0.21793	-1.0235|-1.0235	9|5	0.49607|.	T|.	0.09|.	.|.	4.4369|4.4369	0.11555|0.11555	0.0791:0.2901:0.4811:0.1497|0.0791:0.2901:0.4811:0.1497	.|.	110;85;110;110|.	F5GYX5;O14513-3;O14513-2;O14513|.	.;.;.;NCKP5_HUMAN|.	K|R	110;110;110;110;110;85|105	ENSP00000387128:Q110K;ENSP00000386952:Q110K;ENSP00000380603:Q110K;ENSP00000385692:Q110K|.	ENSP00000380603:Q110K|.	Q|S	-|-	1|3	0|2	NCKAP5|NCKAP5	133604033|133604033	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	1.743000|1.743000	0.38258|0.38258	0.433000|0.433000	0.26313|0.26313	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.488	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		22	62	1	0	1.10513e-12	1	1.18829e-12	22	62				
TRAF3	7187	broad.mit.edu	37	14	103372120	103372120	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:103372120G>A	ENST00000560371.1	+	11	1923	c.1706G>A	c.(1705-1707)tGa>tAa	p.*569*	TRAF3_ENST00000392745.2_Silent_p.*569*|TRAF3_ENST00000351691.5_Silent_p.*544*|TRAF3_ENST00000347662.4_Silent_p.*544*|TRAF3_ENST00000539721.1_Silent_p.*486*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	0					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CCCGATCCCTGATAAGTAGCT	0.453																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(1705-1707)tGa>tAa		TNF receptor-associated factor 3							21.0	25.0	24.0					14																	103372120		2146	4273	6419	SO:0001819	synonymous_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103372120G>A	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1706G>A	14.37:g.103372120G>A						TRAF3_ENST00000351691.5_Silent_p.*544*|TRAF3_ENST00000392745.2_Silent_p.*569*|TRAF3_ENST00000347662.4_Silent_p.*544*|TRAF3_ENST00000539721.1_Silent_p.*486*	p.*569*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	11	1923	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	0					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP	ENST00000560371.1	37	c.1706G>A	CCDS9975.1																																																																																				0.453	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		44	98	0	0	0	1	0	44	98				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			9	146	0	0	0	1	0	9	146				
C6orf118	168090	broad.mit.edu	37	6	165715503	165715503	+	Missense_Mutation	SNP	G	G	A	rs149637046	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:165715503G>A	ENST00000230301.8	-	2	328	c.308C>T	c.(307-309)gCg>gTg	p.A103V	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTCATCCTCGCCACCTTCCC	0.682													G|||	4	0.000798722	0.0023	0.0	5008	,	,		15733	0.0		0.0	False		,,,				2504	0.001					ENST00000230301.8																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(307-309)gCg>gTg		chromosome 6 open reading frame 118		G	VAL/ALA	9,4397	15.5+/-35.6	0,9,2194	61.0	65.0	64.0		308	-0.3	0.0	6	dbSNP_134	64	0,8600		0,0,4300	yes	missense	C6orf118	NM_144980.3	64	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	103/470	165715503	9,12997	2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715503G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.308C>T	6.37:g.165715503G>A	ENSP00000230301:p.Ala103Val					C6orf118_ENST00000543069.1_5'UTR	p.A103V	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	328	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	103					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.308C>T	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.468132	0.26335	0.002043	0.0	ENSG00000112539	ENST00000230301	T	0.13420	2.59	5.31	-0.284	0.12870	.	1.611550	0.03200	N	0.174686	T	0.02193	0.0068	N	0.12182	0.205	0.09310	N	0.999999	P	0.39964	0.697	B	0.35899	0.213	T	0.30909	-0.9962	10	0.41790	T	0.15	.	5.3731	0.16150	0.0723:0.1041:0.4543:0.3693	.	103	Q5T5N4	CF118_HUMAN	V	103	ENSP00000230301:A103V	ENSP00000230301:A103V	A	-	2	0	C6orf118	165635493	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.564000	0.23563	-0.305000	0.08831	-0.797000	0.03246	GCG		0.682	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		5	418	0	0	0	1	0	5	418				
PCDH9	5101	broad.mit.edu	37	13	67799612	67799612	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:67799612A>C	ENST00000377865.2	-	1	3095	c.2961T>G	c.(2959-2961)agT>agG	p.S987R	PCDH9_ENST00000544246.1_Missense_Mutation_p.S987R|PCDH9_ENST00000456367.1_Missense_Mutation_p.S987R|PCDH9_ENST00000377861.3_Missense_Mutation_p.S987R|PCDH9_ENST00000328454.5_Missense_Mutation_p.S987R			Q9HC56	PCDH9_HUMAN	protocadherin 9	987					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGTGATCTGAACTAGTGGAAG	0.493																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(2959-2961)agT>agG		protocadherin 9							122.0	115.0	117.0					13																	67799612		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67799612A>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2961T>G	13.37:g.67799612A>C	ENSP00000367096:p.Ser987Arg					PCDH9_ENST00000377861.3_Missense_Mutation_p.S987R|PCDH9_ENST00000328454.5_Missense_Mutation_p.S987R|PCDH9_ENST00000456367.1_Missense_Mutation_p.S987R|PCDH9_ENST00000377865.2_Missense_Mutation_p.S987R	p.S987R	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3652	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	987					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2961T>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258886	0.39896	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.63	5.63	0.86233	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	L	0.61218	1.895	0.58432	D	0.999993	D;D;D;D	0.71674	0.998;0.996;0.998;0.998	D;D;D;D	0.74023	0.982;0.955;0.969;0.982	T	0.57797	-0.7749	10	0.49607	T	0.09	.	15.8249	0.78690	1.0:0.0:0.0:0.0	.	987;987;987;987	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	R	987	ENSP00000442186:S987R;ENSP00000367096:S987R;ENSP00000401699:S987R;ENSP00000332060:S987R;ENSP00000367092:S987R	ENSP00000332060:S987R	S	-	3	2	PCDH9	66697613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.163000	0.50763	2.142000	0.66516	0.533000	0.62120	AGT		0.493	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		133	304	0	0	0	1	0	133	304				
NHLRC2	374354	broad.mit.edu	37	10	115663395	115663395	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:115663395G>A	ENST00000369301.3	+	9	1816	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	535										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AATGAACCAGGAGGCTTGTGT	0.343																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1603-1605)gGa>gAa		NHL repeat containing 2							161.0	177.0	172.0					10																	115663395		2203	4297	6500	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115663395G>A	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1604G>A	10.37:g.115663395G>A	ENSP00000358307:p.Gly535Glu						p.G535E	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	9	1816	+			535					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.1604G>A	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572991	0.86542	.	.	ENSG00000196865	ENST00000369301	T	0.71222	-0.55	5.76	5.76	0.90799	Six-bladed beta-propeller, TolB-like (1);	0.056460	0.64402	D	0.000001	T	0.78966	0.4367	L	0.41415	1.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.74794	-0.3544	10	0.32370	T	0.25	-17.4608	18.5117	0.90918	0.0:0.0:1.0:0.0	.	535	Q8NBF2	NHLC2_HUMAN	E	535	ENSP00000358307:G535E	ENSP00000358307:G535E	G	+	2	0	NHLRC2	115653385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.471000	0.80985	2.871000	0.98454	0.655000	0.94253	GGA		0.343	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		16	1155	0	0	0	1	0	16	1155				
RPA2	6118	broad.mit.edu	37	1	28240600	28240600	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:28240600C>T	ENST00000373912.3	-	2	390	c.91G>A	c.(91-93)Gca>Aca	p.A31T	RPA2_ENST00000373909.3_Missense_Mutation_p.A39T|RPA2_ENST00000313433.7_Missense_Mutation_p.A119T	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	31					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGAAGGTGCGGGCGATCCA	0.493								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(91-93)Gca>Aca	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							60.0	69.0	66.0					1																	28240600		2203	4300	6503	SO:0001583	missense	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28240600C>T	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.91G>A	1.37:g.28240600C>T	ENSP00000363021:p.Ala31Thr					RPA2_ENST00000373909.3_Missense_Mutation_p.A39T|RPA2_ENST00000313433.7_Missense_Mutation_p.A119T	p.A31T	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	2	390	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	31					Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	c.91G>A	CCDS314.1	.	.	.	.	.	.	.	.	.	.	C	5.270	0.235293	0.09969	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.23147	2.25;2.25;2.22;1.92	4.59	0.58	0.17402	.	0.230912	0.46442	N	0.000296	T	0.09730	0.0239	N	0.12182	0.205	0.09310	N	1	B;B	0.21309	0.002;0.054	B;B	0.15052	0.002;0.012	T	0.21655	-1.0239	10	0.19147	T	0.46	-14.3524	3.0498	0.06166	0.4332:0.1943:0.0:0.3725	.	31;39	P15927;P15927-2	RFA2_HUMAN;.	T	31;39;119;35	ENSP00000363021:A31T;ENSP00000363017:A39T;ENSP00000363015:A119T;ENSP00000387649:A35T	ENSP00000363015:A119T	A	-	1	0	RPA2	28113187	0.041000	0.20044	0.025000	0.17156	0.097000	0.18754	0.187000	0.16998	0.221000	0.20879	-0.378000	0.06908	GCA		0.493	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		5	318	0	0	0	1	0	5	318				
NCLN	56926	broad.mit.edu	37	19	3207244	3207244	+	Silent	SNP	G	G	A	rs367933938		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:3207244G>A	ENST00000246117.4	+	13	1979	c.1548G>A	c.(1546-1548)gcG>gcA	p.A516A	NCLN_ENST00000590671.1_Silent_p.A442A	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	516					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGAATGCGTACAGGTGAG	0.597																																						ENST00000246117.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(1546-1548)gcG>gcA		nicalin		G		0,4406		0,0,2203	116.0	111.0	112.0		1548	-9.0	0.3	19		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NCLN	NM_020170.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		516/564	3207244	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3207244G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.1548G>A	19.37:g.3207244G>A						NCLN_ENST00000590671.1_Silent_p.A442A	p.A516A	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1979	+		Hepatocellular(1079;0.137)	516					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	c.1548G>A	CCDS32869.1																																																																																				0.597	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		6	557	0	0	0	1	0	6	557				
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:47599133C>T	ENST00000526005.1	-	2	572	c.419G>A	c.(418-420)cGc>cAc	p.R140H	NDUFS3_ENST00000263774.4_5'Flank|KBTBD4_ENST00000533290.1_Missense_Mutation_p.R165H|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|RNU5E-10P_ENST00000363506.1_RNA			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140								p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517																																						ENST00000533290.1																			2	Substitution - Missense(2)	p.R140H(2)	large_intestine(1)|lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(493-495)cGc>cAc		kelch repeat and BTB (POZ) domain containing 4							174.0	172.0	173.0					11																	47599133		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47599133C>T	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.419G>A	11.37:g.47599133C>T	ENSP00000433340:p.Arg140His					KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H	p.R165H			Q9NVX7	KBTB4_HUMAN			1	1208	-			140			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.494G>A	CCDS7940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836560|4.836560	0.91117|0.91117	.|.	.|.	ENSG00000123444|ENSG00000123444	ENST00000359900|ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	.|T;T;T;T;T;T;T;T;T	.|0.73047	.|-0.64;-0.71;-0.64;-0.7;-0.57;-0.57;-0.57;-0.57;-0.57	5.4|5.4	5.4|5.4	0.78164|0.78164	.|BTB/POZ-like (1);BTB/POZ fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82591|0.82591	0.5070|0.5070	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.81914	.|0.991;0.995;0.995	D|D	0.83844|0.83844	0.0259|0.0259	6|10	0.02654|0.72032	T|D	1|0.01	-17.6736|-17.6736	19.1652|19.1652	0.93553|0.93553	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;140;165	.|Q9NVX7-2;Q9NVX7;B3KRH9	.|.;KBTB4_HUMAN;.	T|H	155|140;165;140;156;189;140;140;140;165	.|ENSP00000433340:R140H;ENSP00000436713:R165H;ENSP00000378703:R140H;ENSP00000415106:R156H;ENSP00000434477:R189H;ENSP00000433404:R140H;ENSP00000433653:R140H;ENSP00000435651:R140H;ENSP00000433124:R165H	ENSP00000352971:A155T|ENSP00000378703:R140H	A|R	-|-	1|2	0|0	KBTBD4|KBTBD4	47555709|47555709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.520000|2.520000	0.84964|0.84964	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		7	738	0	0	0	1	0	7	738				
PCDHB18	54660	broad.mit.edu	37	5	140616014	140616014	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:140616014C>T	ENST00000526308.1	+	0	2077					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGCCAGGCTGCTGAGCGAGCG	0.711																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140616014C>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616014C>T								NR_001281.1						0	2077	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.711	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			186	299	0	0	0	1	0	186	299				
AKR7L	246181	broad.mit.edu	37	1	19595169	19595169	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:19595169C>T	ENST00000429712.1	-	0	850				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CAGGGCAATGCCCTCGAAGTG	0.627																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							85.0	76.0	79.0					1																	19595169		2203	4300	6503			246181							g.chr1:19595169C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595169C>T						AKR7L_ENST00000429712.1_RNA								0	533	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	C	11.83	1.757156	0.31137	.	.	ENSG00000211454	ENST00000420396;ENST00000457194;ENST00000429712;ENST00000388886	T	0.04156	3.69	3.73	1.72	0.24424	NADP-dependent oxidoreductase domain (3);	0.300379	0.35615	N	0.003087	T	0.16557	0.0398	.	.	.	0.26543	N	0.974053	P	0.52577	0.954	D	0.68943	0.961	T	0.01460	-1.1349	9	0.49607	T	0.09	.	13.0196	0.58779	0.0:0.4743:0.5256:0.0	.	244	Q8NHP1	ARK74_HUMAN	D	66;134;244;209	ENSP00000406430:G66D	ENSP00000373538:G209D	G	-	2	0	AKR7L	19467756	0.960000	0.32886	0.858000	0.33744	0.002000	0.02628	0.857000	0.27831	0.325000	0.23359	-0.565000	0.04167	GGC		0.627	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		5	433	0	0	0	1	0	5	433				
B3GALT5	10317	broad.mit.edu	37	21	41032648	41032648	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:41032648G>A	ENST00000380620.4	+	5	754	c.162G>A	c.(160-162)caG>caA	p.Q54Q	B3GALT5_ENST00000398714.2_Silent_p.Q54Q|B3GALT5_ENST00000343118.4_Silent_p.Q54Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.Q54Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	54					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGCAGGCAGACACCTCCCT	0.502																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(160-162)caG>caA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							88.0	80.0	83.0					21																	41032648		2203	4300	6503	SO:0001819	synonymous_variant	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41032648G>A	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.162G>A	21.37:g.41032648G>A						B3GALT5_ENST00000398714.2_Silent_p.Q54Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.Q54Q|B3GALT5_ENST00000343118.4_Silent_p.Q54Q	p.Q54Q			Q9Y2C3	B3GT5_HUMAN			5	754	+		Prostate(19;2.55e-06)	54					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Silent	SNP	ENST00000380620.4	37	c.162G>A	CCDS13667.1																																																																																				0.502	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		84	324	0	0	0	1	0	84	324				
TSC2	7249	broad.mit.edu	37	16	2130188	2130188	+	Silent	SNP	C	C	T	rs373968155		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:2130188C>T	ENST00000219476.3	+	30	4050	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G	TSC2_ENST00000353929.4_Silent_p.G1097G|TSC2_ENST00000439673.2_Silent_p.G1060G|TSC2_ENST00000568454.1_Silent_p.G1107G|TSC2_ENST00000382538.6_Silent_p.G1048G|TSC2_ENST00000350773.4_Silent_p.G1140G|TSC2_ENST00000401874.2_Silent_p.G1096G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1140					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCGAGTTGGCGCCCTGGACG	0.632			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3418-3420)ggC>ggT		tuberous sclerosis 2		C	,,	4,4392	8.1+/-20.4	0,4,2194	107.0	114.0	112.0		3420,3288,3420	-6.7	0.1	16		112	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	,,	0,4,6491	TT,TC,CC		0.0,0.091,0.0308	,,	1140/1808,1096/1741,1140/1785	2130188	4,12986	2198	4297	6495	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2130188C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3420C>T	16.37:g.2130188C>T						TSC2_ENST00000353929.4_Silent_p.G1097G|TSC2_ENST00000350773.4_Silent_p.G1140G|TSC2_ENST00000401874.2_Silent_p.G1096G|TSC2_ENST00000382538.6_Silent_p.G1048G|TSC2_ENST00000439673.2_Silent_p.G1060G|TSC2_ENST00000568454.1_Silent_p.G1107G	p.G1140G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			30	4050	+		Hepatocellular(780;0.0202)	1140					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.3420C>T	CCDS10458.1																																																																																				0.632	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		7	1203	0	0	0	1	0	7	1203				
MRPS30	10884	broad.mit.edu	37	5	44815301	44815301	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:44815301C>T	ENST00000507110.1	+	5	1355	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	439					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGTTGGAAAACTGAAAAAGCA	0.294																																						ENST00000507110.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20						c.(1315-1317)aaC>aaT		mitochondrial ribosomal protein S30							36.0	38.0	37.0					5																	44815301		2203	4297	6500	SO:0001819	synonymous_variant	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44815301C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.1317C>T	5.37:g.44815301C>T							p.N439N	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN			5	1355	+	Lung NSC(6;8.08e-07)		439					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	c.1317C>T	CCDS3951.1																																																																																				0.294	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		9	277	0	0	0	1	0	9	277				
P4HA2	8974	broad.mit.edu	37	5	131546093	131546093	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:131546093G>A	ENST00000401867.1	-	7	1161	c.593C>T	c.(592-594)gCc>gTc	p.A198V	P4HA2_ENST00000379104.2_Missense_Mutation_p.A198V|P4HA2_ENST00000166534.4_Missense_Mutation_p.A198V|P4HA2_ENST00000379086.1_Missense_Mutation_p.A198V|P4HA2_ENST00000379100.2_Missense_Mutation_p.A198V|P4HA2_ENST00000360568.3_Missense_Mutation_p.A198V			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	198					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTCCTCCCCGGCATCAAGCTG	0.572																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(592-594)gCc>gTc		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						209.0	191.0	197.0					5																	131546093		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131546093G>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.593C>T	5.37:g.131546093G>A	ENSP00000384999:p.Ala198Val					P4HA2_ENST00000379104.2_Missense_Mutation_p.A198V|P4HA2_ENST00000379100.2_Missense_Mutation_p.A198V|P4HA2_ENST00000379086.1_Missense_Mutation_p.A198V|P4HA2_ENST00000360568.3_Missense_Mutation_p.A198V|P4HA2_ENST00000166534.4_Missense_Mutation_p.A198V	p.A198V			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1161	-		all_cancers(142;0.103)|Breast(839;0.198)	198					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.593C>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880750	0.51801	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.92	3.97	0.46021	Tetratricopeptide-like helical (1);	0.488693	0.23132	N	0.051565	T	0.35307	0.0927	L	0.47716	1.5	0.29787	N	0.833534	B;B	0.16802	0.019;0.009	B;B	0.22152	0.028;0.038	T	0.22173	-1.0224	10	0.46703	T	0.11	-2.6784	9.8318	0.40946	0.0:0.1031:0.6031:0.2938	.	198;198	O15460;O15460-2	P4HA2_HUMAN;.	V	198;198;198;198;198;198;198;230	ENSP00000384999:A198V;ENSP00000368379:A198V;ENSP00000166534:A198V;ENSP00000353772:A198V;ENSP00000368398:A198V;ENSP00000368394:A198V	ENSP00000166534:A198V	A	-	2	0	P4HA2	131573992	0.101000	0.21875	0.997000	0.53966	0.886000	0.51366	1.254000	0.32897	2.809000	0.96659	0.467000	0.42956	GCC		0.572	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		6	771	0	0	0	1	0	6	771				
TRMT12	55039	broad.mit.edu	37	8	125463295	125463295	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:125463295T>G	ENST00000328599.3	+	1	248	c.127T>G	c.(127-129)Ttt>Gtt	p.F43V	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	43					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGAAACTCTTTGATACACA	0.557																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(127-129)Ttt>Gtt		tRNA methyltransferase 12 homolog (S. cerevisiae)							83.0	85.0	85.0					8																	125463295		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463295T>G	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.127T>G	8.37:g.125463295T>G	ENSP00000329858:p.Phe43Val					TRMT12_ENST00000521443.1_3'UTR	p.F43V	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	248	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		43					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.127T>G	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.980463	0.34942	.	.	ENSG00000183665	ENST00000328599	T	0.40225	1.04	5.14	-3.63	0.04529	.	0.071623	0.56097	D	0.000028	T	0.17450	0.0419	N	0.08118	0	0.24462	N	0.994434	B	0.12630	0.006	B	0.06405	0.002	T	0.06303	-1.0834	10	0.66056	D	0.02	-6.7128	6.8676	0.24102	0.0:0.362:0.1226:0.5154	.	43	Q53H54	TYW2_HUMAN	V	43	ENSP00000329858:F43V	ENSP00000329858:F43V	F	+	1	0	TRMT12	125532476	0.057000	0.20700	0.842000	0.33263	0.587000	0.36485	-0.847000	0.04331	-0.876000	0.04017	-0.375000	0.07067	TTT		0.557	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		6	353	0	0	0	1	0	6	353				
MT-ND2	4536	broad.mit.edu	37	M	1720	1720	+	5'Flank	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrM:1720C>A	ENST00000361453.3	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						AGACAACCTTAGCCAAACCAT	0.413																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:1720C>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1720C>A	Exception_encountered							NR_039705.1						0	50	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.413	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		3	15	1	0	0.150653	1	0.150994	3	15				
CCR9	10803	broad.mit.edu	37	3	45943060	45943060	+	Silent	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:45943060G>C	ENST00000357632.2	+	3	960	c.780G>C	c.(778-780)ctG>ctC	p.L260L	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.L248L|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Silent_p.L248L	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	260					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCACTGTCCTGACCGTCTTTG	0.478																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(778-780)ctG>ctC		chemokine (C-C motif) receptor 9							217.0	177.0	190.0					3																	45943060		2203	4300	6503	SO:0001819	synonymous_variant	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45943060G>C	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.780G>C	3.37:g.45943060G>C						CCR9_ENST00000355983.2_Silent_p.L248L|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000395963.2_Silent_p.L248L|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR	p.L260L	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	960	+			260					Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	c.780G>C	CCDS2732.1																																																																																				0.478	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			5	386	0	0	0	1	0	5	386				
GPR156	165829	broad.mit.edu	37	3	119962536	119962536	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:119962536G>A	ENST00000464295.1	-	3	629	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	GPR156_ENST00000461057.1_Silent_p.L62L|GPR156_ENST00000315843.3_Silent_p.L62L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGTATCAGCAGAAGTCCACAG	0.428																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(184-186)Ctg>Ttg		G protein-coupled receptor 156							127.0	115.0	119.0					3																	119962536		2203	4300	6503	SO:0001819	synonymous_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962536G>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.184C>T	3.37:g.119962536G>A						GPR156_ENST00000315843.3_Silent_p.L62L|GPR156_ENST00000461057.1_Silent_p.L62L	p.L62L			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	3	629	-			62					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	c.184C>T	CCDS2997.1																																																																																				0.428	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		176	347	0	0	0	1	0	176	347				
SNX33	257364	broad.mit.edu	37	15	75949553	75949553	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:75949553C>T	ENST00000308527.5	+	2	2919	c.1722C>T	c.(1720-1722)ctC>ctT	p.L574L		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	574	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ATGACAACCTCTGACCGCGTG	0.612																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1720-1722)ctC>ctT		sorting nexin 33							113.0	116.0	115.0					15																	75949553		2197	4294	6491	SO:0001819	synonymous_variant	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75949553C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1722C>T	15.37:g.75949553C>T							p.L574L	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			2	2919	+			574			BAR.		B1NM17	Silent	SNP	ENST00000308527.5	37	c.1722C>T	CCDS10283.1																																																																																				0.612	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		6	778	0	0	0	1	0	6	778				
CADM4	199731	broad.mit.edu	37	19	44129317	44129317	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:44129317G>A	ENST00000222374.2	-	7	889	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	281	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCGGATACCAGACCCGGCAGC	0.622																																						ENST00000222374.2																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(841-843)Ctg>Ttg		cell adhesion molecule 4							55.0	46.0	49.0					19																	44129317		2203	4300	6503	SO:0001819	synonymous_variant	199731				cell adhesion	integral to membrane		g.chr19:44129317G>A	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.841C>T	19.37:g.44129317G>A						CADM4_ENST00000593506.1_5'UTR	p.L281L	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN			7	889	-		Prostate(69;0.0199)	281			Ig-like C2-type 2.		B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	c.841C>T	CCDS12627.1																																																																																				0.622	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		12	290	0	0	0	1	0	12	290				
FAM151A	338094	broad.mit.edu	37	1	55089019	55089019	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:55089019G>A	ENST00000302250.2	-	1	210	c.50C>T	c.(49-51)gCc>gTc	p.A17V	ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Missense_Mutation_p.A17V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	17						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGTAATGCCGGCAAACACCCA	0.602																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(49-51)gCc>gTc		family with sequence similarity 151, member A							236.0	184.0	201.0					1																	55089019		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55089019G>A	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.50C>T	1.37:g.55089019G>A	ENSP00000306888:p.Ala17Val					FAM151A_ENST00000371304.2_Missense_Mutation_p.A17V|ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA	p.A17V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			1	210	-			17					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.50C>T	CCDS594.1	.	.	.	.	.	.	.	.	.	.	G	7.745	0.702152	0.15172	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.11063	2.81;2.9	3.53	-4.68	0.03309	.	1.079840	0.07266	N	0.868223	T	0.06735	0.0172	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41556	-0.9502	10	0.27785	T	0.31	-1.1056	10.8026	0.46497	0.7957:0.0:0.2043:0.0	.	17	Q8WW52	F151A_HUMAN	V	17	ENSP00000306888:A17V;ENSP00000360353:A17V	ENSP00000294370:A17V	A	-	2	0	FAM151A	54861607	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.189000	0.09629	-1.100000	0.03030	-0.136000	0.14681	GCC		0.602	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		6	806	0	0	0	1	0	6	806				
SCAP	22937	broad.mit.edu	37	3	47455391	47455391	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:47455391C>T	ENST00000265565.5	-	23	4205	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	SCAP_ENST00000545718.1_Missense_Mutation_p.E872K|SCAP_ENST00000441517.2_Missense_Mutation_p.E1009K	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1265	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGCTGAGCTCACTGCCAAAG	0.617																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3793-3795)Gag>Aag		SREBF chaperone							148.0	149.0	149.0					3																	47455391		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455391C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3793G>A	3.37:g.47455391C>T	ENSP00000265565:p.Glu1265Lys					SCAP_ENST00000545718.1_Missense_Mutation_p.E872K|SCAP_ENST00000441517.2_Missense_Mutation_p.E1009K	p.E1265K	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	23	4205	-			1265			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.3793G>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230099	0.95207	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.81078	-1.45;-1.41;0.74	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	L	0.29908	0.895	0.80722	D	1	D;D	0.65815	0.995;0.985	P;P	0.57152	0.814;0.718	D	0.84115	0.0403	10	0.62326	D	0.03	-31.3009	18.0736	0.89421	0.0:1.0:0.0:0.0	.	1009;1265	F8W921;Q12770	.;SCAP_HUMAN	K	757;891;1265;1009;872	ENSP00000265565:E1265K;ENSP00000416847:E1009K;ENSP00000438956:E872K	ENSP00000265565:E1265K	E	-	1	0	SCAP	47430395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.427000	0.66483	2.596000	0.87737	0.655000	0.94253	GAG		0.617	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		44	938	0	0	0	1	0	44	938				
OR2L8	391190	broad.mit.edu	37	1	248112794	248112794	+	Missense_Mutation	SNP	G	G	C	rs200574966		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:248112794G>C	ENST00000357191.3	+	1	635	c.635G>C	c.(634-636)gGt>gCt	p.G212A	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G212A(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCCTTCATTGGTATTTCATGT	0.498																																						ENST00000357191.3																			2	Substitution - Missense(2)	p.G212A(2)	prostate(1)|skin(1)	endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(634-636)gGt>gCt		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							176.0	87.0	117.0					1																	248112794		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112794G>C	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.635G>C	1.37:g.248112794G>C	ENSP00000349719:p.Gly212Ala					OR2L13_ENST00000366478.2_Intron	p.G212A	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	635	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		212					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.635G>C	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.747988	0.00669	.	.	ENSG00000196936	ENST00000357191	T	0.35973	1.28	1.8	-3.61	0.04556	GPCR, rhodopsin-like superfamily (1);	0.592578	0.12695	U	0.446818	T	0.14657	0.0354	N	0.05012	-0.13	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.11817	-1.0572	10	0.46703	T	0.11	.	5.6462	0.17590	0.0:0.2703:0.1902:0.5394	.	212	Q8NGY9	OR2L8_HUMAN	A	212	ENSP00000349719:G212A	ENSP00000349719:G212A	G	+	2	0	OR2L8	246179417	0.000000	0.05858	0.006000	0.13384	0.165000	0.22458	-1.473000	0.02339	-1.273000	0.02424	-0.515000	0.04445	GGT		0.498	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			5	724	0	0	0	1	0	5	724				
SH2B1	25970	broad.mit.edu	37	16	28877903	28877903	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:28877903G>A	ENST00000322610.8	+	4	927	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.R163Q|SH2B1_ENST00000359285.5_Missense_Mutation_p.R163Q|SH2B1_ENST00000395532.4_Missense_Mutation_p.R163Q|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	163	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CGCTCTGTCCGAGGCTCAGTC	0.652																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(487-489)cGa>cAa		SH2B adaptor protein 1							87.0	82.0	84.0					16																	28877903		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28877903G>A	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.488G>A	16.37:g.28877903G>A	ENSP00000321221:p.Arg163Gln					SH2B1_ENST00000359285.5_Missense_Mutation_p.R163Q|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.R163Q|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.R163Q	p.R163Q	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			1	3779	+			163			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.488G>A	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663858	0.67700	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.51325	0.71;0.72;0.73;0.73	3.95	3.95	0.45737	.	0.218237	0.26692	N	0.022987	T	0.40979	0.1139	N	0.14661	0.345	0.41978	D	0.990788	D;D;D	0.63880	0.991;0.974;0.993	P;P;P	0.51079	0.658;0.565;0.546	T	0.44711	-0.9310	10	0.46703	T	0.11	-31.1346	14.9215	0.70841	0.0:0.0:1.0:0.0	.	163;163;163	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	Q	163	ENSP00000321221:R163Q;ENSP00000352232:R163Q;ENSP00000378903:R163Q;ENSP00000337163:R163Q	ENSP00000321221:R163Q	R	+	2	0	SH2B1	28785404	0.996000	0.38824	0.972000	0.41901	0.952000	0.60782	2.673000	0.46858	2.055000	0.61198	0.455000	0.32223	CGA		0.652	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		162	486	0	0	0	1	0	162	486				
CYP11B1	1584	broad.mit.edu	37	8	143958530	143958530	+	Silent	SNP	G	G	A	rs199819891	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:143958530G>A	ENST00000292427.4	-	3	536	c.504C>T	c.(502-504)ttC>ttT	p.F168F	CYP11B1_ENST00000377675.3_Silent_p.F239F|CYP11B1_ENST00000517471.1_Silent_p.F168F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	168					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGGCCTGGGAGAAGTCCCTGG	0.612									Familial Hyperaldosteronism type I				.|||	2	0.000399361	0.0	0.0014	5008	,	,		20092	0.0		0.001	False		,,,				2504	0.0					ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(502-504)ttC>ttT		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						48.0	44.0	45.0					8																	143958530		2203	4298	6501	SO:0001819	synonymous_variant	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143958530G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.504C>T	8.37:g.143958530G>A						CYP11B1_ENST00000517471.1_Silent_p.F168F|CYP11B1_ENST00000377675.3_Silent_p.F239F	p.F168F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			3	536	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		168					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.504C>T	CCDS6392.1																																																																																				0.612	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			5	247	0	0	0	1	0	5	247				
LRIT2	340745	broad.mit.edu	37	10	85982052	85982052	+	Missense_Mutation	SNP	C	C	T	rs537193806		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:85982052C>T	ENST00000372113.4	-	3	1282	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	LRIT2_ENST00000538192.1_Missense_Mutation_p.G436D	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	426	Fibronectin type-III.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATATTTTGTGCCAGGAAGGAG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20449	0.0		0.0	False		,,,				2504	0.001					ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1276-1278)gGc>gAc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							112.0	108.0	109.0					10																	85982052		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85982052C>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1277G>A	10.37:g.85982052C>T	ENSP00000361185:p.Gly426Asp					LRIT2_ENST00000538192.1_Missense_Mutation_p.G436D	p.G426D	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1282	-			426			Fibronectin type-III.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1277G>A	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	5.913	0.352604	0.11182	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.19394	2.15;2.15	5.04	1.64	0.23874	Fibronectin, type III (1);	0.598328	0.18213	N	0.148127	T	0.13927	0.0337	L	0.44542	1.39	0.21325	N	0.999722	P;P	0.38922	0.651;0.501	B;B	0.30251	0.113;0.08	T	0.13737	-1.0498	10	0.28530	T	0.3	.	10.3486	0.43920	0.126:0.2959:0.578:0.0	.	436;426	B7ZME6;A6NDA9	.;LRIT2_HUMAN	D	426;436	ENSP00000361185:G426D;ENSP00000438264:G436D	ENSP00000361185:G426D	G	-	2	0	LRIT2	85972032	0.913000	0.31002	0.041000	0.18516	0.097000	0.18754	1.588000	0.36633	0.584000	0.29591	-0.300000	0.09419	GGC		0.542	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		7	672	0	0	0	1	0	7	672				
JAKMIP1	152789	broad.mit.edu	37	4	6107248	6107248	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:6107248G>A	ENST00000282924.5	-	3	1061	c.576C>T	c.(574-576)gaC>gaT	p.D192D	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Silent_p.D192D|JAKMIP1_ENST00000409021.3_Silent_p.D192D|JAKMIP1_ENST00000410077.2_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	192	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTGCACCTCGTCTTGGTGCG	0.701																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(574-576)gaC>gaT		janus kinase and microtubule interacting protein 1							24.0	22.0	23.0					4																	6107248		2201	4298	6499	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107248G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.576C>T	4.37:g.6107248G>A						JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Silent_p.D192D|JAKMIP1_ENST00000282924.5_Silent_p.D192D|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron	p.D192D	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			3	1025	-			192			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.576C>T	CCDS3385.1																																																																																				0.701	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		33	57	0	0	0	1	0	33	57				
OR6X1	390260	broad.mit.edu	37	11	123625215	123625215	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:123625215G>A	ENST00000327930.2	-	1	38	c.12C>T	c.(10-12)ggC>ggT	p.G4G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGATTACTGTGCCATTTCTCA	0.398																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(10-12)ggC>ggT		olfactory receptor, family 6, subfamily X, member 1							89.0	82.0	85.0					11																	123625215		2196	4274	6470	SO:0001819	synonymous_variant	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123625215G>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.12C>T	11.37:g.123625215G>A							p.G4G	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	38	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	4					B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	c.12C>T	CCDS31695.1																																																																																				0.398	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		135	506	0	0	0	1	0	135	506				
CENPT	80152	broad.mit.edu	37	16	67865088	67865088	+	Intron	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:67865088C>G	ENST00000562787.1	-	10	1252				CENPT_ENST00000219172.3_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Intron|CENPT_ENST00000445712.2_Missense_Mutation_p.W142S|CENPT_ENST00000562947.1_Intron	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GAGCTTTCCCCAAAGGCCAGC	0.597																																						ENST00000445712.2																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(424-426)tGg>tCg		centromere protein T							87.0	94.0	92.0					16																	67865088		1994	4172	6166	SO:0001627	intron_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865088C>G	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.703+30G>C	16.37:g.67865088C>G						CENPT_ENST00000219172.3_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000562787.1_Intron|CENPT_ENST00000440851.2_Intron	p.W142S			Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	6	671	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	0					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.425G>C	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241164	0.58995	.	.	ENSG00000102901	ENST00000445712	T	0.47869	0.83	4.8	2.81	0.32909	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.09310	N	1	B	0.22909	0.077	B	0.19391	0.025	T	0.32348	-0.9910	8	0.87932	D	0	.	6.6649	0.23035	0.0:0.7202:0.1813:0.0985	.	142	B4DMP9	.	S	142	ENSP00000411594:W142S	ENSP00000411594:W142S	W	-	2	0	CENPT	66422589	0.003000	0.15002	0.007000	0.13788	0.479000	0.33129	1.173000	0.31920	0.562000	0.29204	0.555000	0.69702	TGG		0.597	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		144	695	0	0	0	1	0	144	695				
LILRA1	11024	broad.mit.edu	37	19	55106239	55106239	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:55106239G>A	ENST00000251372.3	+	4	362	c.180G>A	c.(178-180)ctG>ctA	p.L60L	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Silent_p.L60L|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	60	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L60L(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGTACCGTCTGTATAGAGAAA	0.572																																						ENST00000453777.1																			3	Substitution - coding silent(3)	p.L60L(3)	kidney(3)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(178-180)ctG>ctA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							124.0	119.0	121.0					19																	55106239		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106239G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.180G>A	19.37:g.55106239G>A						LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.L60L	p.L60L	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	350	+			60			Ig-like C2-type 1.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.180G>A	CCDS12901.1																																																																																				0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		7	659	0	0	0	1	0	7	659				
RYR2	6262	broad.mit.edu	37	1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAGGCCGGACGGTGGTA	0.552																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3295-3297)Gga>Aga		ryanodine receptor 2 (cardiac)							133.0	134.0	134.0					1																	237729947		1973	4146	6119	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729947G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3295G>A	1.37:g.237729947G>A	ENSP00000355533:p.Gly1099Arg					RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	p.G1099R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3612	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1099			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3295G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569236	0.86439	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92348	-3.02;-3.02;-3.02	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000010	D	0.96645	0.8905	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97217	0.9875	10	0.87932	D	0	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	1099	Q92736	RYR2_HUMAN	R	1099;1097;1083	ENSP00000355533:G1099R;ENSP00000353174:G1097R;ENSP00000443798:G1083R	ENSP00000353174:G1097R	G	+	1	0	RYR2	235796570	1.000000	0.71417	0.874000	0.34290	0.873000	0.50193	7.924000	0.87555	2.465000	0.83290	0.655000	0.94253	GGA		0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	646	0	0	0	1	0	6	646				
KRT6B	3854	broad.mit.edu	37	12	52843307	52843307	+	Silent	SNP	A	A	G	rs367709654		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:52843307A>G	ENST00000252252.3	-	5	1070	c.1023T>C	c.(1021-1023)taT>taC	p.Y341Y		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	341	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAATCTCCTCATATTGGGCCT	0.562													A|||	1	0.000199681	0.0008	0.0	5008	,	,		22655	0.0		0.0	False		,,,				2504	0.0					ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(1021-1023)taT>taC		keratin 6B		A		1,4405	2.1+/-5.4	0,1,2202	218.0	194.0	202.0		1023	-2.1	0.4	12		202	0,8600		0,0,4300	no	coding-synonymous	KRT6B	NM_005555.3		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		341/565	52843307	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843307A>G	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1023T>C	12.37:g.52843307A>G							p.Y341Y	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	1070	-			341			Coil 2.|Rod.		P48669	Silent	SNP	ENST00000252252.3	37	c.1023T>C	CCDS8828.1																																																																																				0.562	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		9	834	0	0	0	1	0	9	834				
MAATS1	89876	broad.mit.edu	37	3	119462849	119462849	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:119462849G>A	ENST00000273390.5	+	14	1785	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	406						mitochondrion (GO:0005739)		p.G570*(1)									CCATTTGGCCGGACTGGAAGG	0.453																																						ENST00000273390.5																			1	Substitution - Nonsense(1)	p.G570*(1)	lung(1)								c.(1708-1710)Gga>Aga		MYCBP-associated, testis expressed 1							80.0	72.0	75.0					3																	119462849		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119462849G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1708G>A	3.37:g.119462849G>A	ENSP00000273390:p.Gly570Arg						p.G570R	NM_033364.3	NP_203528.2					14	1785	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1708G>A	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360748	0.24598	.	.	ENSG00000183833	ENST00000273390	T	0.21734	1.99	5.84	5.84	0.93424	.	0.303432	0.35555	N	0.003139	T	0.16685	0.0401	L	0.46157	1.445	0.25101	N	0.990783	B;B;B	0.30361	0.054;0.277;0.054	B;B;B	0.29077	0.011;0.098;0.019	T	0.24119	-1.0169	10	0.08837	T	0.75	-17.2529	10.5728	0.45211	0.0717:0.1979:0.7304:0.0	.	406;508;570	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	R	570	ENSP00000273390:G570R	ENSP00000273390:G570R	G	+	1	0	C3orf15	120945539	0.748000	0.28294	0.782000	0.31804	0.612000	0.37316	1.930000	0.40124	2.765000	0.95021	0.484000	0.47621	GGA		0.453	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		5	359	0	0	0	1	0	5	359				
NGDN	25983	broad.mit.edu	37	14	23945486	23945486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:23945486C>T	ENST00000408901.3	+	8	611	c.583C>T	c.(583-585)Cga>Tga	p.R195*	NGDN_ENST00000397154.3_Nonsense_Mutation_p.R195*|NGDN_ENST00000556580.1_5'UTR	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	195					regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCGTCTAGAACGAGCCAAGAG	0.473																																						ENST00000397154.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12						c.(583-585)Cga>Tga		neuroguidin, EIF4E binding protein							72.0	73.0	73.0					14																	23945486		2203	4300	6503	SO:0001587	stop_gained	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23945486C>T	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.583C>T	14.37:g.23945486C>T	ENSP00000386134:p.Arg195*					NGDN_ENST00000408901.3_Nonsense_Mutation_p.R195*|NGDN_ENST00000556580.1_5'UTR	p.R195*			Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	8	596	+	all_cancers(95;0.000251)		195					A8K760|Q9Y400	Nonsense_Mutation	SNP	ENST00000408901.3	37	c.583C>T	CCDS41926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.410545|5.410545	0.96072|0.96072	.|.	.|.	ENSG00000129460|ENSG00000129460	ENST00000408901;ENST00000397154|ENST00000556483	.|.	.|.	.|.	5.89|5.89	4.98|4.98	0.66077|0.66077	.|.	0.211551|.	0.40728|.	N|.	0.001026|.	.|T	.|0.70762	.|0.3261	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70103	.|-0.4964	.|4	0.02654|.	T|.	1|.	-19.2174|-19.2174	14.907|14.907	0.70727|0.70727	0.149:0.851:0.0:0.0|0.149:0.851:0.0:0.0	.|.	.|.	.|.	.|.	X|M	195|142	.|.	ENSP00000380340:R195X|.	R|T	+|+	1|2	2|0	NGDN|NGDN	23015326|23015326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	3.550000|3.550000	0.53691|0.53691	1.440000|1.440000	0.47531|0.47531	0.563000|0.563000	0.77884|0.77884	CGA|ACG		0.473	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635		16	205	0	0	0	1	0	16	205				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			8	770	0	0	0	1	0	8	770				
FAM184A	79632	broad.mit.edu	37	6	119285893	119285893	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:119285893G>A	ENST00000338891.7	-	16	3520	c.3077C>T	c.(3076-3078)aCt>aTt	p.T1026I	FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.T857I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1026						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTGAAGTTAGTTTCTCGATT	0.303																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(3076-3078)aCt>aTt		family with sequence similarity 184, member A							107.0	98.0	101.0					6																	119285893		1828	4074	5902	SO:0001583	missense	79632							g.chr6:119285893G>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3077C>T	6.37:g.119285893G>A	ENSP00000342604:p.Thr1026Ile					FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Missense_Mutation_p.T857I|FAM184A_ENST00000521531.1_Intron|RP11-351A11.1_ENST00000518570.1_RNA	p.T1026I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			16	3520	-			1026					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.3077C>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087818	0.76642	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368472	T;T;T	0.52057	2.35;2.29;0.68	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.60520	-0.7247	10	0.41790	T	0.15	-12.1337	19.9925	0.97371	0.0:0.0:1.0:0.0	.	857;1026	F8W8D6;Q8NB25	.;F184A_HUMAN	I	1026;857;87	ENSP00000342604:T1026I;ENSP00000326608:T857I;ENSP00000357457:T87I	ENSP00000342604:T1026I	T	-	2	0	FAM184A	119327592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.655000	0.74392	2.721000	0.93114	0.655000	0.94253	ACT		0.303	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		12	114	0	0	0	1	0	12	114				
ACTR3B	57180	broad.mit.edu	37	7	152551607	152551607	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:152551607G>A	ENST00000256001.8	+	12	1360	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	ACTR3B_ENST00000397282.2_Missense_Mutation_p.R321H|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R321H|ACTR3B_ENST00000377776.3_Missense_Mutation_p.R339H	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	409						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R409L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		AGCATCTGCCGCCACAACCCC	0.547																																						ENST00000256001.8																			1	Substitution - Missense(1)	p.R409L(1)	lung(1)	breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(1225-1227)cGc>cAc		ARP3 actin-related protein 3 homolog B (yeast)							130.0	100.0	110.0					7																	152551607		2203	4300	6503	SO:0001583	missense	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152551607G>A		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.1226G>A	7.37:g.152551607G>A	ENSP00000256001:p.Arg409His					ACTR3B_ENST00000377776.3_Missense_Mutation_p.R339H|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R321H|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R321H	p.R409H	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	12	1360	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	409					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	ENST00000256001.8	37	c.1226G>A	CCDS5934.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968456	0.92855	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	T;D;D;D	0.94046	3.18;-3.34;-3.34;-3.34	4.83	3.95	0.45737	.	0.095097	0.42821	N	0.000643	D	0.93700	0.7987	L	0.31420	0.93	0.46279	D	0.998963	B;D	0.89917	0.109;1.0	B;D	0.97110	0.006;1.0	D	0.93847	0.7142	10	0.72032	D	0.01	.	12.2102	0.54375	0.0826:0.0:0.9174:0.0	.	339;409	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	H	339;409;321;321	ENSP00000367007:R339H;ENSP00000256001:R409H;ENSP00000380452:R321H;ENSP00000446157:R321H	ENSP00000256001:R409H	R	+	2	0	ACTR3B	152182540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.436000	0.80404	1.144000	0.42321	0.603000	0.83216	CGC		0.547	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		6	497	0	0	0	1	0	6	497				
PDGFC	56034	broad.mit.edu	37	4	157689125	157689125	+	Silent	SNP	G	G	A	rs201389930		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:157689125G>A	ENST00000502773.1	-	5	1211	c.721C>T	c.(721-723)Cta>Tta	p.L241L	PDGFC_ENST00000541126.1_Silent_p.L78L|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Silent_p.L241L|PDGFC_ENST00000542208.1_Silent_p.L86L	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	241					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCCTCTGTTAGAAGGTTCAGA	0.383																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(721-723)Cta>Tta		platelet derived growth factor C							143.0	134.0	137.0					4																	157689125		2203	4300	6503	SO:0001819	synonymous_variant	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689125G>A	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.721C>T	4.37:g.157689125G>A						PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000542208.1_Silent_p.L86L|PDGFC_ENST00000541126.1_Silent_p.L78L|PDGFC_ENST00000422544.2_Silent_p.L241L	p.L241L	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1211	-	all_hematologic(180;0.24)	Renal(120;0.0458)	241					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Silent	SNP	ENST00000502773.1	37	c.721C>T	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	G	8.399	0.841530	0.16963	.	.	ENSG00000145431	ENST00000543489	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.74703	0.3751	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73830	-0.3859	5	0.40728	T	0.16	-7.46	18.7512	0.91816	0.0:0.0:1.0:0.0	.	.	.	.	F	155	.	ENSP00000446162:S155F	S	-	2	0	PDGFC	157908575	1.000000	0.71417	0.747000	0.31113	0.955000	0.61496	5.667000	0.68067	2.434000	0.82447	0.655000	0.94253	TCT		0.383	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			28	681	0	0	0	1	0	28	681				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		10	1905	0	0	0	1	0	10	1905				
KIAA1715	80856	broad.mit.edu	37	2	176829253	176829253	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:176829253G>A	ENST00000272748.4	-	7	669	c.422C>T	c.(421-423)cCg>cTg	p.P141L	KIAA1715_ENST00000544803.1_Missense_Mutation_p.P141L|KIAA1715_ENST00000535310.1_Missense_Mutation_p.P66L	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	141					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTTTGAGTCCGGATCAAACCT	0.299																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(421-423)cCg>cTg		KIAA1715							102.0	106.0	105.0					2																	176829253		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176829253G>A	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.422C>T	2.37:g.176829253G>A	ENSP00000272748:p.Pro141Leu					KIAA1715_ENST00000544803.1_Missense_Mutation_p.P141L|KIAA1715_ENST00000535310.1_Missense_Mutation_p.P66L	p.P141L	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		7	669	-			141					B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.422C>T	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942413	0.73672	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.4	5.4	0.78164	.	0.047246	0.85682	D	0.000000	T	0.79203	0.4406	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.71674	0.994;0.998;0.966;0.995	P;P;B;P	0.60068	0.701;0.868;0.361;0.811	T	0.81929	-0.0708	9	0.87932	D	0	-11.8135	19.5476	0.95305	0.0:0.0:1.0:0.0	.	143;141;138;141	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	L	141;143;18;141;66	.	ENSP00000272748:P141L	P	-	2	0	KIAA1715	176537499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.361000	0.97122	2.681000	0.91329	0.650000	0.86243	CCG		0.299	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		5	341	0	0	0	1	0	5	341				
PBRM1	55193	broad.mit.edu	37	3	52610715	52610715	+	Splice_Site	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:52610715C>T	ENST00000296302.7	-	22	3535		c.e22-1		PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(6)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTTTCAATTCTTGGGGAGGA	0.343			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		6	Unknown(6)	p.?(6)	kidney(6)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.e21-1		polybromo 1							52.0	51.0	52.0					3																	52610715		2199	4300	6499	SO:0001630	splice_region_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52610715C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3534-1G>A	3.37:g.52610715C>T						PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Splice_Site				Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	3440	-								A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37			.	.	.	.	.	.	.	.	.	.	C	24.8	4.568252	0.86439	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3907	0.94581	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52585755	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.720000	0.84759	2.664000	0.90586	0.591000	0.81541	.		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	6	168	0	0	0	1	0	6	168				
TACR2	6865	broad.mit.edu	37	10	71164771	71164771	+	Silent	SNP	G	G	C	rs200509825		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:71164771G>C	ENST00000373306.4	-	5	1551	c.1008C>G	c.(1006-1008)ctC>ctG	p.L336L	TACR2_ENST00000373307.1_Silent_p.L124L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	336					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GAGTCAGCTCGAGCTTATCTT	0.612																																						ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1006-1008)ctC>ctG		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						152.0	132.0	139.0					10																	71164771		2203	4300	6503	SO:0001819	synonymous_variant	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71164771G>C		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.1008C>G	10.37:g.71164771G>C						TACR2_ENST00000373307.1_Silent_p.L124L	p.L336L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			5	1551	-			336					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	ENST00000373306.4	37	c.1008C>G	CCDS7293.1																																																																																				0.612	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			12	463	0	0	0	1	0	12	463				
SC5D	6309	broad.mit.edu	37	11	121174258	121174258	+	Silent	SNP	C	C	T	rs200792246		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:121174258C>T	ENST00000392789.2	+	2	411	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SC5D_ENST00000264027.4_Silent_p.F58F|SC5D_ENST00000534230.1_Silent_p.F58F	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	58					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.F58F(1)									ATTTTGTCTTCGATCATGCAT	0.294													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19192	0.0		0.0	False		,,,				2504	0.0					ENST00000264027.4																			1	Substitution - coding silent(1)	p.F58F(1)	large_intestine(1)								c.(172-174)ttC>ttT		sterol-C5-desaturase							156.0	152.0	154.0					11																	121174258		2203	4299	6502	SO:0001819	synonymous_variant	6309							g.chr11:121174258C>T		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.174C>T	11.37:g.121174258C>T						SC5D_ENST00000392789.2_Silent_p.F58F|SC5D_ENST00000534230.1_Silent_p.F58F	p.F58F	NM_006918.4	NP_008849.2					2	548	+								O00119|Q6GTM5|Q9UK15	Silent	SNP	ENST00000392789.2	37	c.174C>T	CCDS8435.1																																																																																				0.294	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		70	251	0	0	0	1	0	70	251				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381596.1_5'Flank|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		6	74	0	0	0	1	0	6	74				
PRSS57	400668	broad.mit.edu	37	19	691972	691972	+	Silent	SNP	G	G	A	rs182506087	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:691972G>A	ENST00000329267.7	-	3	296	c.267C>T	c.(265-267)ggC>ggT	p.G89G		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	89	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						GGACGTGGGCGCCCAGCACCA	0.662													G|||	2	0.000399361	0.0	0.0029	5008	,	,		15373	0.0		0.0	False		,,,				2504	0.0					ENST00000329267.7																			0				central_nervous_system(1)|lung(5)	6						c.(265-267)ggC>ggT		protease, serine, 57		G		1,4405	2.1+/-5.4	0,1,2202	56.0	35.0	42.0		267	-7.7	0.8	19		42	0,8596		0,0,4298	no	coding-synonymous	PRSS57	NM_214710.3		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		89/284	691972	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:691972G>A	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.267C>T	19.37:g.691972G>A							p.G89G	NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN			3	296	-			89			Peptidase S1.		B2RNW8	Silent	SNP	ENST00000329267.7	37	c.267C>T	CCDS12041.1																																																																																				0.662	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		30	47	0	0	0	1	0	30	47				
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158.0	170.0	166.0					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		9	1480	0	0	0	1	0	9	1480				
FBXO45	200933	broad.mit.edu	37	3	196304578	196304578	+	Silent	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:196304578T>C	ENST00000311630.6	+	2	870	c.573T>C	c.(571-573)agT>agC	p.S191S	FBXO45_ENST00000440469.1_Silent_p.S12S	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	191	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGCTGGGCAGTGATGACCAGA	0.517																																						ENST00000311630.6																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(571-573)agT>agC		F-box protein 45							55.0	56.0	56.0					3																	196304578		1969	4162	6131	SO:0001819	synonymous_variant	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196304578T>C	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.573T>C	3.37:g.196304578T>C						FBXO45_ENST00000440469.1_Silent_p.S12S	p.S191S	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	2	870	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		191			B30.2/SPRY.		A6NF90|D3DXB5	Silent	SNP	ENST00000311630.6	37	c.573T>C	CCDS46985.1																																																																																				0.517	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			54	114	0	0	0	1	0	54	114				
TOE1	114034	broad.mit.edu	37	1	45808833	45808833	+	Missense_Mutation	SNP	C	C	T	rs375841165		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:45808833C>T	ENST00000372090.5	+	8	1575	c.992C>T	c.(991-993)gCg>gTg	p.A331V	MUTYH_ENST00000372098.3_5'Flank|TESK2_ENST00000486676.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.A251V|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000529984.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	331						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GATGAGGCTGCGGCAGAGGAC	0.562																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(991-993)gCg>gTg		target of EGR1, member 1 (nuclear)		C	VAL/ALA	0,4406		0,0,2203	111.0	113.0	112.0		992	-0.3	0.1	1		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOE1	NM_025077.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	331/511	45808833	1,13005	2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45808833C>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.992C>T	1.37:g.45808833C>T	ENSP00000361162:p.Ala331Val					TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.A251V	p.A331V	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			8	1575	+	Acute lymphoblastic leukemia(166;0.155)		331					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.992C>T	CCDS521.1	.	.	.	.	.	.	.	.	.	.	C	3.297	-0.143636	0.06627	0.0	1.16E-4	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.26957	1.7;1.7	5.99	-0.283	0.12874	.	1.039030	0.07509	N	0.908541	T	0.08223	0.0205	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.33650	-0.9860	10	0.02654	T	1	-1.1095	7.0299	0.24960	0.1274:0.4575:0.0:0.4151	.	251;331	B4DEM6;Q96GM8	.;TOE1_HUMAN	V	331;251	ENSP00000361162:A331V;ENSP00000438900:A251V	ENSP00000361162:A331V	A	+	2	0	TOE1	45581420	0.000000	0.05858	0.094000	0.20943	0.302000	0.27658	-0.128000	0.10531	-0.070000	0.12908	-0.302000	0.09304	GCG		0.562	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		6	959	0	0	0	1	0	6	959				
NBPF12	149013	broad.mit.edu	37	1	146397379	146397379	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:146397379C>G	ENST00000442909.2	+	6	1032	c.196C>G	c.(196-198)Ctc>Gtc	p.L66V	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.L66V			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						GTGTAAAGACCTCATAAAATT	0.527																																						ENST00000442909.2																			0				ovary(2)	2						c.(196-198)Ctc>Gtc		neuroblastoma breakpoint family, member 12																																				SO:0001583	missense	149013							g.chr1:146397379C>G	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.196C>G	1.37:g.146397379C>G	ENSP00000391116:p.Leu66Val					NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.L66V	p.L66V							6	1032	+								O95877	Missense_Mutation	SNP	ENST00000442909.2	37	c.196C>G		.	.	.	.	.	.	.	.	.	.	N	8.973	0.973352	0.18736	.	.	ENSG00000186275	ENST00000446760;ENST00000442909	T;T	0.03689	3.84;3.88	1.11	-2.02	0.07388	.	.	.	.	.	T	0.01765	0.0056	L	0.61218	1.895	0.09310	N	1	.	.	.	.	.	.	T	0.41627	-0.9498	7	0.48119	T	0.1	.	2.1489	0.03795	0.408:0.3351:0.2568:0.0	.	.	.	.	V	66	ENSP00000396525:L66V;ENSP00000391116:L66V	ENSP00000391116:L66V	L	+	1	0	NBPF12	144766784	0.004000	0.15560	0.001000	0.08648	0.021000	0.10359	-0.017000	0.12590	-0.566000	0.06054	0.074000	0.15403	CTC		0.527	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		12	1026	0	0	0	1	0	12	1026				
OTUD7B	56957	broad.mit.edu	37	1	149916371	149916371	+	Silent	SNP	G	G	A	rs199790009		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:149916371G>A	ENST00000369135.4	-	12	2211	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	639					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTTCTGCCAGGAATCTCTCCT	0.517																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1915-1917)ttC>ttT		OTU domain containing 7B							126.0	126.0	126.0					1																	149916371		1990	4180	6170	SO:0001819	synonymous_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916371G>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1917C>T	1.37:g.149916371G>A							p.F639F	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2211	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		639					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	c.1917C>T	CCDS41389.1																																																																																				0.517	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		157	637	0	0	0	1	0	157	637				
KIF5B	3799	broad.mit.edu	37	10	32310006	32310006	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:32310006G>A	ENST00000302418.4	-	19	2605	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	716					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCAAACTACTGATCTGTTTTT	0.358			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(2146-2148)atC>atT		kinesin family member 5B							175.0	168.0	171.0					10																	32310006		2202	4299	6501	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32310006G>A	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2148C>T	10.37:g.32310006G>A						KIF5B_ENST00000493889.1_5'UTR	p.I716I	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			19	2605	-		Prostate(175;0.0137)	716					A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.2148C>T	CCDS7171.1																																																																																				0.358	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		18	513	0	0	0	1	0	18	513				
CHST6	4166	broad.mit.edu	37	16	75513557	75513557	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:75513557C>T	ENST00000332272.4	-	3	349	c.170G>A	c.(169-171)gGc>gAc	p.G57D	CHST6_ENST00000390664.2_Missense_Mutation_p.G57D|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	57					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAGAGTTGGCCCACGAAGGA	0.677																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(169-171)gGc>gAc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							39.0	32.0	35.0					16																	75513557		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513557C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.170G>A	16.37:g.75513557C>T	ENSP00000328983:p.Gly57Asp					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.G57D	p.G57D	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	349	-			57					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.170G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671338	0.88348	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.83075	-1.68;-1.68	4.56	4.56	0.56223	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92747	0.7694	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94326	0.7558	10	0.66056	D	0.02	.	14.8296	0.70137	0.0:1.0:0.0:0.0	.	57	Q9GZX3	CHST6_HUMAN	D	57	ENSP00000328983:G57D;ENSP00000375079:G57D	ENSP00000328983:G57D	G	-	2	0	CHST6	74071058	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.078000	0.62432	0.591000	0.81541	GGC		0.677	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		4	196	0	0	0	1	0	4	196				
SEC62	7095	broad.mit.edu	37	3	169706036	169706036	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:169706036G>A	ENST00000337002.4	+	7	677	c.619G>A	c.(619-621)Gta>Ata	p.V207I	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000470355.1_3'UTR|SEC62_ENST00000480708.1_Missense_Mutation_p.V207I	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	207					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						AGTGATTGCAGTAATAGCGGC	0.418																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(619-621)Gta>Ata		SEC62 homolog (S. cerevisiae)							136.0	128.0	131.0					3																	169706036		2203	4300	6503	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169706036G>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.619G>A	3.37:g.169706036G>A	ENSP00000337688:p.Val207Ile					SEC62_ENST00000480708.1_Missense_Mutation_p.V207I|SEC62_ENST00000470355.1_3'UTR	p.V207I	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			7	677	+			207					D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.619G>A	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785306	0.49997	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	L	0.34521	1.04	0.80722	D	1	B	0.28850	0.225	B	0.34824	0.19	T	0.49826	-0.8898	9	0.07325	T	0.83	-13.5952	20.8794	0.99867	0.0:0.0:1.0:0.0	.	207	Q99442	SEC62_HUMAN	I	207	.	ENSP00000337688:V207I	V	+	1	0	SEC62	171188730	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	9.363000	0.97131	2.941000	0.99782	0.655000	0.94253	GTA		0.418	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			5	611	0	0	0	1	0	5	611				
DCAF4L2	138009	broad.mit.edu	37	8	88885210	88885210	+	Silent	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:88885210C>A	ENST00000319675.3	-	1	1086	c.990G>T	c.(988-990)gcG>gcT	p.A330A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	330										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGCCCACGGCCGCCACGACTC	0.567																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(988-990)gcG>gcT		DDB1 and CUL4 associated factor 4-like 2							78.0	82.0	80.0					8																	88885210		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885210C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.990G>T	8.37:g.88885210C>A							p.A330A	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1086	-			330						Silent	SNP	ENST00000319675.3	37	c.990G>T	CCDS6245.1																																																																																				0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		12	408	1	0	2.27111e-07	1	2.38979e-07	12	408				
CHL1	10752	broad.mit.edu	37	3	367698	367698	+	Missense_Mutation	SNP	G	G	A	rs150837773		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:367698G>A	ENST00000256509.2	+	4	790	c.148G>A	c.(148-150)Gat>Aat	p.D50N	CHL1_ENST00000397491.2_Missense_Mutation_p.D50N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTTCCCTTCGATGAGTATTT	0.333																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(148-150)Gat>Aat		cell adhesion molecule L1-like		G	ASN/ASP	0,4404		0,0,2202	86.0	87.0	87.0		148	5.7	0.9	3	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHL1	NM_006614.2	23	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	50/1225	367698	1,13003	2202	4300	6502	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:367698G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.148G>A	3.37:g.367698G>A	ENSP00000256509:p.Asp50Asn					CHL1_ENST00000397491.2_Missense_Mutation_p.D50N	p.D50N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	4	790	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	50			Ig-like C2-type 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.148G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724427	0.89298	0.0	1.16E-4	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000427688;ENST00000421198;ENST00000435603;ENST00000449294	T;T;T;T;T;D	0.95885	-0.27;-0.27;0.19;-0.27;-0.27;-3.84	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182770	0.46145	D	0.000309	D	0.96719	0.8929	L	0.45744	1.44	0.53688	D	0.999976	D;D;D	0.89917	0.992;1.0;1.0	P;D;D	0.87578	0.808;0.998;0.995	D	0.96379	0.9280	10	0.45353	T	0.12	.	17.9886	0.89162	0.0:0.0:1.0:0.0	.	50;50;50	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	N	50	ENSP00000256509:D50N;ENSP00000380628:D50N;ENSP00000403311:D50N;ENSP00000413628:D50N;ENSP00000397445:D50N;ENSP00000390440:D50N	ENSP00000256509:D50N	D	+	1	0	CHL1	342698	1.000000	0.71417	0.950000	0.38849	0.738000	0.42128	7.870000	0.87175	2.669000	0.90835	0.551000	0.68910	GAT		0.333	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		7	212	0	0	0	1	0	7	212				
SNHG14	104472715	broad.mit.edu	37	15	25429530	25429530	+	RNA	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:25429530G>T	ENST00000424208.1	+	0	450				SNORD115-9_ENST00000362912.1_RNA|SNORD115-8_ENST00000363856.1_RNA|SNHG14_ENST00000365306.1_RNA|SNHG14_ENST00000441592.2_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATTACGCTGAGGCCCAGCCTA	0.517																																						ENST00000424208.1																			0																				349.0	341.0	344.0					15																	25429530		876	1988	2864			0							g.chr15:25429530G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25429530G>T						SNORD115-8_ENST00000363856.1_RNA		NR_003305.1						0	450	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.517	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			10	1115	1	0	0.0381472	1	0.0384073	10	1115				
NTRK3	4916	broad.mit.edu	37	15	88524482	88524482	+	Intron	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:88524482C>A	ENST00000360948.2	-	14	1747				NTRK3_ENST00000540489.2_Silent_p.G565G|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000317501.3_Silent_p.G565G|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000557856.1_Intron	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			aagacacttccccactctgga	0.413			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000317501.3				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1693-1695)ggG>ggT		neurotrophic tyrosine kinase, receptor, type 3							97.0	88.0	91.0					15																	88524482		2200	4298	6498	SO:0001627	intron_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88524482C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1586-40498G>T	15.37:g.88524482C>A		TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Silent_p.G565G|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000360948.2_Intron	p.G565G	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1856	-			0			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.1695G>T	CCDS32322.1																																																																																				0.413	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				22	50	1	0	4.35082e-09	1	4.61103e-09	22	50				
IKZF4	64375	broad.mit.edu	37	12	56429066	56429066	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:56429066G>A	ENST00000262032.5	+	12	2076	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Missense_Mutation_p.R525Q|IKZF4_ENST00000547167.1_Missense_Mutation_p.R570Q|IKZF4_ENST00000431367.2_Missense_Mutation_p.R468Q			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	570					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGCCAGGACCGGTACGAATTC	0.552																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1708-1710)cGg>cAg		IKAROS family zinc finger 4 (Eos)							208.0	206.0	207.0					12																	56429066		2153	4273	6426	SO:0001583	missense	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429066G>A	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1709G>A	12.37:g.56429066G>A	ENSP00000262032:p.Arg570Gln					RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Missense_Mutation_p.R525Q|IKZF4_ENST00000547167.1_Missense_Mutation_p.R570Q|IKZF4_ENST00000431367.2_Missense_Mutation_p.R468Q	p.R570Q			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2076	+			570					Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	c.1709G>A	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536134	0.85812	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.74	4.74	0.60224	Zinc finger, C2H2-like (1);	0.000000	0.44097	D	0.000483	T	0.62258	0.2413	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;1.0;0.99	D;P;D;P	0.81914	0.995;0.71;0.995;0.516	T	0.65763	-0.6089	10	0.72032	D	0.01	-11.3719	16.6505	0.85188	0.0:0.0:1.0:0.0	.	468;525;529;570	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	Q	570;468;570;525	ENSP00000262032:R570Q;ENSP00000412101:R468Q;ENSP00000448419:R570Q;ENSP00000450020:R525Q	ENSP00000262032:R570Q	R	+	2	0	IKZF4	54715333	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.601000	0.98297	2.453000	0.82957	0.313000	0.20887	CGG		0.552	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		6	966	0	0	0	1	0	6	966				
SMYD5	10322	broad.mit.edu	37	2	73451115	73451115	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:73451115T>G	ENST00000389501.4	+	10	969	c.924T>G	c.(922-924)ttT>ttG	p.F308L		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	308	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTGGCCTCTTTGTGCTTCAGA	0.478																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(922-924)ttT>ttG		SMYD family member 5							230.0	209.0	216.0					2																	73451115		2203	4300	6503	SO:0001583	missense	10322						metal ion binding	g.chr2:73451115T>G	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.924T>G	2.37:g.73451115T>G	ENSP00000374152:p.Phe308Leu						p.F308L	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			10	969	+			308			SET.		D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.924T>G	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521334	0.64747	.	.	ENSG00000135632	ENST00000389501	T	0.81415	-1.49	4.77	2.14	0.27477	SET domain (2);	0.218148	0.48767	D	0.000176	T	0.73125	0.3547	L	0.45581	1.43	0.40606	D	0.981624	B	0.29481	0.245	B	0.35182	0.197	T	0.70594	-0.4829	10	0.66056	D	0.02	-8.2184	6.1113	0.20102	0.0:0.5224:0.0:0.4776	.	308	Q6GMV2	SMYD5_HUMAN	L	308	ENSP00000374152:F308L	ENSP00000374152:F308L	F	+	3	2	SMYD5	73304623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.888000	0.28268	0.815000	0.34398	0.533000	0.62120	TTT		0.478	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		84	628	0	0	0	1	0	84	628				
SH3BP4	23677	broad.mit.edu	37	2	235949825	235949825	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:235949825G>A	ENST00000409212.1	+	4	919	c.412G>A	c.(412-414)Gag>Aag	p.E138K	SH3BP4_ENST00000392011.2_Missense_Mutation_p.E138K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E138K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	138					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGTAGCCAAGGAGCTGGAGCT	0.507																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(412-414)Gag>Aag		SH3-domain binding protein 4							86.0	85.0	85.0					2																	235949825		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235949825G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.412G>A	2.37:g.235949825G>A	ENSP00000386862:p.Glu138Lys					SH3BP4_ENST00000392011.2_Missense_Mutation_p.E138K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E138K	p.E138K			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	919	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	138					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.412G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080730	0.76528	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T	0.34275	2.74;2.74;2.74;1.37	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72338	0.977;0.977	T	0.49485	-0.8935	10	0.54805	T	0.06	-0.3903	17.7288	0.88371	0.0:0.0:1.0:0.0	.	138;138	A8K594;Q9P0V3	.;SH3B4_HUMAN	K	138	ENSP00000375867:E138K;ENSP00000386862:E138K;ENSP00000340237:E138K;ENSP00000415391:E138K	ENSP00000340237:E138K	E	+	1	0	SH3BP4	235614564	1.000000	0.71417	0.953000	0.39169	0.031000	0.12232	9.549000	0.98106	2.519000	0.84933	0.655000	0.94253	GAG		0.507	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			45	350	0	0	0	1	0	45	350				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		14	203	0	0	0	1	0	14	203				
HHAT	55733	broad.mit.edu	37	1	210637926	210637926	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:210637926C>T	ENST00000367010.1	+	8	1161	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	HHAT_ENST00000541565.1_Missense_Mutation_p.R175C|HHAT_ENST00000367009.1_Missense_Mutation_p.R2C|HHAT_ENST00000391905.3_Missense_Mutation_p.R312C|HHAT_ENST00000545154.1_Missense_Mutation_p.R313C|HHAT_ENST00000413764.2_Missense_Mutation_p.R312C|HHAT_ENST00000308852.6_Missense_Mutation_p.R267C|HHAT_ENST00000537898.1_Missense_Mutation_p.R247C|HHAT_ENST00000545781.1_Missense_Mutation_p.R249C|HHAT_ENST00000261458.3_Missense_Mutation_p.R312C	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	312					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TCTGCTCATGCGCCTGGATGG	0.577																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(934-936)Cgc>Tgc		hedgehog acyltransferase							175.0	162.0	166.0					1																	210637926		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637926C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.934C>T	1.37:g.210637926C>T	ENSP00000355977:p.Arg312Cys					HHAT_ENST00000261458.3_Missense_Mutation_p.R312C|HHAT_ENST00000545781.1_Missense_Mutation_p.R249C|HHAT_ENST00000545154.1_Missense_Mutation_p.R313C|HHAT_ENST00000541565.1_Missense_Mutation_p.R175C|HHAT_ENST00000308852.6_Missense_Mutation_p.R267C|HHAT_ENST00000537898.1_Missense_Mutation_p.R247C|HHAT_ENST00000367009.1_Missense_Mutation_p.R2C|HHAT_ENST00000413764.2_Missense_Mutation_p.R312C|HHAT_ENST00000391905.3_Missense_Mutation_p.R312C	p.R312C	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	8	1161	+			312					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.934C>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990682	0.74589	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968;ENST00000367009	T;T;T;T;T;T;T;T;T;T;T	0.55588	2.09;0.86;2.06;2.11;2.08;2.09;2.09;2.09;2.09;1.77;0.51	5.42	5.42	0.78866	.	0.290731	0.35936	N	0.002896	T	0.70718	0.3256	M	0.70275	2.135	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999	D;P;D;D;D	0.64506	0.912;0.854;0.926;0.912;0.912	T	0.71371	-0.4613	10	0.48119	T	0.1	-24.7016	17.987	0.89158	0.0:1.0:0.0:0.0	.	267;313;175;247;312	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	C	312;175;313;247;312;249;312;267;312;184;2	ENSP00000416845:R312C;ENSP00000444995:R175C;ENSP00000438468:R313C;ENSP00000442625:R247C;ENSP00000375773:R312C;ENSP00000439229:R249C;ENSP00000261458:R312C;ENSP00000308628:R267C;ENSP00000355977:R312C;ENSP00000413399:R184C;ENSP00000355976:R2C	ENSP00000261458:R312C	R	+	1	0	HHAT	208704549	0.998000	0.40836	1.000000	0.80357	0.866000	0.49608	3.568000	0.53820	2.533000	0.85409	0.555000	0.69702	CGC		0.577	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		7	672	0	0	0	1	0	7	672				
VARS2	57176	broad.mit.edu	37	6	30889969	30889969	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:30889969G>A	ENST00000321897.5	+	19	2515	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.R488H|VARS2_ENST00000541562.1_Missense_Mutation_p.R658H|VARS2_ENST00000416670.2_Missense_Mutation_p.R628H			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	628					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R628H(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGGGTGGGCCGCATGGTCATG	0.587																																						ENST00000321897.5																			1	Substitution - Missense(1)	p.R628H(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(1882-1884)cGc>cAc		valyl-tRNA synthetase 2, mitochondrial							111.0	118.0	115.0					6																	30889969		1508	2708	4216	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30889969G>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1883G>A	6.37:g.30889969G>A	ENSP00000316092:p.Arg628His					VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.R628H|VARS2_ENST00000542001.1_Missense_Mutation_p.R488H|VARS2_ENST00000541562.1_Missense_Mutation_p.R658H	p.R628H			Q5ST30	SYVM_HUMAN			19	2515	+			628					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.1883G>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225926	0.95173	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.14	5.14	0.70334	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.098318	0.64402	D	0.000002	T	0.53948	0.1828	M	0.91090	3.175	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64067	-0.6494	10	0.87932	D	0	-23.951	16.1439	0.81551	0.0:0.0:1.0:0.0	.	626;658;628	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	H	628;628;488;658	ENSP00000316092:R628H;ENSP00000394802:R628H;ENSP00000438200:R488H;ENSP00000441000:R658H	ENSP00000316092:R628H	R	+	2	0	VARS2	30997948	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.722000	0.91452	2.686000	0.91538	0.561000	0.74099	CGC		0.587	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		7	695	0	0	0	1	0	7	695				
CROCCP2	84809	broad.mit.edu	37	1	16953753	16953753	+	lincRNA	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:16953753G>A	ENST00000412962.1	-	0	508							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGGACTGAGCGCTTCCCTTCC	0.632																																						ENST00000412962.1																			0																																																			0							g.chr1:16953753G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953753G>A														0	508	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.632	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		28	343	0	0	0	1	0	28	343				
R3HCC1L	27291	broad.mit.edu	37	10	100003867	100003867	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:100003867C>T	ENST00000298999.3	+	10	2592	c.2289C>T	c.(2287-2289)gcC>gcT	p.A763A	R3HCC1L_ENST00000370584.3_Silent_p.A763A|R3HCC1L_ENST00000370586.2_Silent_p.A169A|R3HCC1L_ENST00000314594.5_Silent_p.A179A	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	777							nucleotide binding (GO:0000166)										GGTTGGAAGCCAAGCAACGGG	0.398																																						ENST00000314594.5																			0											c.(535-537)gcC>gcT		R3H domain and coiled-coil containing 1-like							123.0	112.0	116.0					10																	100003867		2203	4300	6503	SO:0001819	synonymous_variant	27291							g.chr10:100003867C>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.2289C>T	10.37:g.100003867C>T						R3HCC1L_ENST00000298999.3_Silent_p.A763A|R3HCC1L_ENST00000370584.3_Silent_p.A763A|R3HCC1L_ENST00000370586.2_Silent_p.A169A	p.A179A	NM_001256619.1	NP_001243548.1					11	2634	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	c.537C>T	CCDS31267.1																																																																																				0.398	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		56	245	0	0	0	1	0	56	245				
COPG1	22820	broad.mit.edu	37	3	128969564	128969564	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:128969564C>T	ENST00000314797.6	+	2	181	c.77C>T	c.(76-78)gCg>gTg	p.A26V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	26					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GAGAAGAGTGCGGTACTCCAG	0.468																																						ENST00000314797.6																			0											c.(76-78)gCg>gTg		coatomer protein complex, subunit gamma 1							127.0	109.0	115.0					3																	128969564		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128969564C>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.77C>T	3.37:g.128969564C>T	ENSP00000325002:p.Ala26Val						p.A26V	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			2	181	+			26					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.77C>T	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834070	0.50951	.	.	ENSG00000181789	ENST00000314797	T	0.25250	1.81	5.03	5.03	0.67393	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.42245	0.1194	L	0.41573	1.285	0.58432	D	0.999997	D	0.76494	0.999	D	0.74674	0.984	T	0.24190	-1.0167	10	0.54805	T	0.06	-22.3002	15.8688	0.79091	0.0:1.0:0.0:0.0	.	26	Q9Y678	COPG_HUMAN	V	26	ENSP00000325002:A26V	ENSP00000325002:A26V	A	+	2	0	COPG	130452254	1.000000	0.71417	0.954000	0.39281	0.186000	0.23388	7.710000	0.84655	2.336000	0.79503	0.655000	0.94253	GCG		0.468	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		5	357	0	0	0	1	0	5	357				
ARVCF	421	broad.mit.edu	37	22	19969135	19969135	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:19969135C>T	ENST00000263207.3	-	5	786	c.495G>A	c.(493-495)cgG>cgA	p.R165R	ARVCF_ENST00000401994.1_Silent_p.R102R|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Silent_p.R102R|ARVCF_ENST00000406259.1_Silent_p.R165R|ARVCF_ENST00000406522.1_Silent_p.R102R	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	165					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCAGGAAATGCCGGTCCAGGG	0.687																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(493-495)cgG>cgA		armadillo repeat gene deleted in velocardiofacial syndrome							26.0	31.0	29.0					22																	19969135		2165	4249	6414	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969135C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.495G>A	22.37:g.19969135C>T						ARVCF_ENST00000344269.3_Silent_p.R102R|ARVCF_ENST00000406522.1_Silent_p.R102R|ARVCF_ENST00000406259.1_Silent_p.R165R|ARVCF_ENST00000401994.1_Silent_p.R102R|ARVCF_ENST00000487793.1_5'UTR	p.R165R	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			5	786	-	Colorectal(54;0.0993)		165					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.495G>A	CCDS13771.1																																																																																				0.687	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		5	476	0	0	0	1	0	5	476				
PRG4	10216	broad.mit.edu	37	1	186276052	186276052	+	Missense_Mutation	SNP	A	A	C	rs542620960	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:186276052A>C	ENST00000445192.2	+	7	1246	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T401P(4)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.642													-|||	12	0.00239617	0.0083	0.0014	5008	,	,		8994	0.0		0.0	False		,,,				2504	0.0					ENST00000445192.2																			5	Substitution - Missense(4)|Complex(1)	p.T401P(4)|p.T400>?(1)	kidney(2)|prostate(1)|lung(1)|endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1201-1203)Acc>Ccc		proteoglycan 4							95.0	89.0	91.0					1																	186276052		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276052A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1201A>C	1.37:g.186276052A>C	ENSP00000399679:p.Thr401Pro					PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P	p.T401P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1246	+			401			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1201A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	3.851	-0.031771	0.07543	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05258	3.54;3.65;3.61;3.47;3.64	3.17	-6.34	0.01982	.	.	.	.	.	T	0.02649	0.0080	N	0.13140	0.3	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.46034	-0.9220	8	.	.	.	.	3.639	0.08160	0.4008:0.398:0.0956:0.1055	.	267;308;401;360	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	358;360;267;360;308;401	ENSP00000356456:T358P;ENSP00000356454:T360P;ENSP00000356453:T360P;ENSP00000356455:T308P;ENSP00000399679:T401P	.	T	+	1	0	PRG4	184542675	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.209000	0.09358	-1.096000	0.03046	-2.716000	0.00133	ACC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	706	0	0	0	1	0	12	706				
ALOXE3	59344	broad.mit.edu	37	17	8017832	8017832	+	Missense_Mutation	SNP	G	G	A	rs200646727		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:8017832G>A	ENST00000448843.2	-	6	990	c.650C>T	c.(649-651)aCg>aTg	p.T217M	ALOXE3_ENST00000380149.1_Missense_Mutation_p.T373M|ALOXE3_ENST00000318227.3_Missense_Mutation_p.T349M	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	217	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGCGAGATCGTCTTGGTGGC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		17716	0.001		0.0	False		,,,				2504	0.0					ENST00000380149.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.(1117-1119)aCg>aTg		arachidonate lipoxygenase 3		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	192.0	150.0	164.0		1046,650	4.2	1.0	17		164	0,8600		0,0,4300	yes	missense,missense	ALOXE3	NM_001165960.1,NM_021628.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	349/844,217/712	8017832	1,13005	2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8017832G>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.650C>T	17.37:g.8017832G>A	ENSP00000400581:p.Thr217Met					ALOXE3_ENST00000448843.2_Missense_Mutation_p.T217M|ALOXE3_ENST00000318227.3_Missense_Mutation_p.T349M	p.T373M			Q9BYJ1	LOXE3_HUMAN			5	1148	-			217			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.1118C>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606478	0.46527	2.27E-4	0.0	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89681	-2.55;-2.55;-2.55	5.22	4.24	0.50183	Lipoxygenase, C-terminal (2);	0.286741	0.39985	N	0.001219	D	0.85932	0.5812	L	0.40543	1.245	0.41066	D	0.985412	P;D;D	0.56746	0.782;0.977;0.977	B;P;P	0.47915	0.189;0.561;0.561	D	0.86119	0.1567	10	0.51188	T	0.08	-16.8023	11.1503	0.48455	0.0899:0.0:0.91:0.0	.	349;217;217	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	M	373;349;217	ENSP00000369494:T373M;ENSP00000314879:T349M;ENSP00000400581:T217M	ENSP00000314879:T349M	T	-	2	0	ALOXE3	7958557	0.997000	0.39634	0.954000	0.39281	0.709000	0.40893	2.843000	0.48238	2.578000	0.87016	0.655000	0.94253	ACG		0.547	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			17	298	0	0	0	1	0	17	298				
ATP12A	479	broad.mit.edu	37	13	25272886	25272886	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:25272886A>G	ENST00000381946.3	+	12	1770	c.1603A>G	c.(1603-1605)Acc>Gcc	p.T535A	ATP12A_ENST00000218548.6_Missense_Mutation_p.T541A			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	535					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GAAATGCAGCACCATCATGAT	0.602																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1621-1623)Acc>Gcc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						123.0	116.0	119.0					13																	25272886		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25272886A>G	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1603A>G	13.37:g.25272886A>G	ENSP00000371372:p.Thr535Ala					ATP12A_ENST00000381946.3_Missense_Mutation_p.T535A	p.T541A	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	12	1954	+		Lung SC(185;0.0225)|Breast(139;0.077)	535					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1621A>G	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040502	0.55003	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.79845	-1.31;-1.31	6.08	6.08	0.98989	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87680	0.6238	L	0.60845	1.875	0.58432	D	0.999993	B;D	0.62365	0.415;0.991	B;D	0.76071	0.271;0.987	D	0.88592	0.3144	10	0.87932	D	0	.	14.5959	0.68407	1.0:0.0:0.0:0.0	.	541;535	P54707-2;P54707	.;AT12A_HUMAN	A	541;535	ENSP00000218548:T541A;ENSP00000371372:T535A	ENSP00000218548:T541A	T	+	1	0	ATP12A	24170886	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	5.917000	0.69989	2.333000	0.79357	0.533000	0.62120	ACC		0.602	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		30	489	0	0	0	1	0	30	489				
FMN2	56776	broad.mit.edu	37	1	240371652	240371652	+	Silent	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:240371652T>C	ENST00000319653.9	+	5	3770	c.3540T>C	c.(3538-3540)ccT>ccC	p.P1180P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1180	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCTGGAGTGGGAA	0.687																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3538-3540)ccT>ccC		formin 2							13.0	14.0	13.0					1																	240371652		2198	4292	6490	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371652T>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3540T>C	1.37:g.240371652T>C							p.P1180P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3770	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1180			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3540T>C	CCDS31069.2																																																																																				0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	168	0	0	0	1	0	6	168				
OR52N5	390075	broad.mit.edu	37	11	5799446	5799446	+	Missense_Mutation	SNP	C	C	T	rs144845456	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:5799446C>T	ENST00000317093.2	-	1	451	c.419G>A	c.(418-420)cGt>cAt	p.R140H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGTAGCATAACGCAAAGGGTA	0.502																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(418-420)cGt>cAt		olfactory receptor, family 52, subfamily N, member 5		C	HIS/ARG	0,4256		0,0,2128	137.0	110.0	119.0		419	0.6	0.0	11	dbSNP_134	119	1,8179		0,1,4089	no	missense	OR52N5	NM_001001922.2	29	0,1,6217	TT,TC,CC		0.0122,0.0,0.0080	possibly-damaging	140/325	5799446	1,12435	2128	4090	6218	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799446C>T	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.419G>A	11.37:g.5799446C>T	ENSP00000322866:p.Arg140His					TRIM5_ENST00000380027.1_Intron	p.R140H	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	451	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	140					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.419G>A	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	C	8.537	0.872434	0.17322	0.0	1.22E-4	ENSG00000181009	ENST00000317093	T	0.00669	5.9	3.7	0.61	0.17580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27294	U	0.020040	T	0.00608	0.0020	N	0.21508	0.67	0.23966	N	0.996326	B	0.16166	0.016	B	0.10450	0.005	T	0.47971	-0.9075	10	0.34782	T	0.22	.	5.9492	0.19235	0.0:0.6557:0.1568:0.1875	.	140	Q8NH56	O52N5_HUMAN	H	140	ENSP00000322866:R140H	ENSP00000322866:R140H	R	-	2	0	OR52N5	5756022	0.000000	0.05858	0.025000	0.17156	0.722000	0.41435	-0.692000	0.05127	0.025000	0.15241	0.494000	0.49563	CGT		0.502	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		31	88	0	0	0	1	0	31	88				
DMBT1	1755	broad.mit.edu	37	10	124336080	124336080	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:124336080C>T	ENST00000338354.3	+	7	555	c.449C>T	c.(448-450)tCa>tTa	p.S150L	DMBT1_ENST00000330163.4_Missense_Mutation_p.S150L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S150L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S150L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S150L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S150L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S150L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	150	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGCCATGTCAGCTCCAGGA	0.602																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(448-450)tCa>tTa		deleted in malignant brain tumors 1							150.0	157.0	155.0					10																	124336080		2116	4254	6370	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336080C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.449C>T	10.37:g.124336080C>T	ENSP00000342210:p.Ser150Leu					DMBT1_ENST00000368955.3_Missense_Mutation_p.S150L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S150L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S150L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S150L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S150L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S150L	p.S150L			Q9UGM3	DMBT1_HUMAN			7	555	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	150			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.449C>T		.	.	.	.	.	.	.	.	.	.	c	15.27	2.782288	0.49891	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.41	2.55	0.30701	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.54351	0.1853	M	0.64260	1.97	0.09310	N	1	P;B;D;B;P;D	0.63046	0.955;0.414;0.961;0.185;0.901;0.992	P;B;P;B;P;D	0.63877	0.684;0.39;0.571;0.052;0.562;0.919	T	0.37911	-0.9685	9	0.51188	T	0.08	.	7.1634	0.25677	0.0:0.7223:0.1365:0.1412	.	150;150;150;150;150;150	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	L	150	ENSP00000342210:S150L;ENSP00000343175:S150L;ENSP00000327747:S150L;ENSP00000357905:S150L;ENSP00000357951:S150L;ENSP00000357952:S150L;ENSP00000352593:S150L	ENSP00000331522:S150L	S	+	2	0	DMBT1	124326070	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.257000	0.08745	0.433000	0.26313	-0.766000	0.03442	TCA		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		39	1150	0	0	0	1	0	39	1150				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	106	0	0	0	1	0	6	106				
SFTPA2	729238	broad.mit.edu	37	10	81317082	81317082	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:81317082G>C	ENST00000372325.2	-	6	714	c.630C>G	c.(628-630)aaC>aaG	p.N210K	SFTPA2_ENST00000372327.5_Missense_Mutation_p.N210K	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	210	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTCGGTACCAGTTGGTGTAGT	0.547									Pulmonary Fibrosis, Idiopathic																													ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(628-630)aaC>aaG		surfactant protein A2							245.0	237.0	240.0					10																	81317082		2203	4296	6499	SO:0001583	missense	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81317082G>C		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.630C>G	10.37:g.81317082G>C	ENSP00000361400:p.Asn210Lys					SFTPA2_ENST00000372327.5_Missense_Mutation_p.N210K	p.N210K	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	714	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		210			C-type lectin.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.630C>G	CCDS41540.1	.	.	.	.	.	.	.	.	.	.	N	10.22	1.289067	0.23478	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327	T;T	0.62364	0.03;0.03	2.81	0.764	0.18465	.	0.067174	0.64402	N	0.000014	T	0.71005	0.3289	M	0.75447	2.3	0.34654	D	0.721943	D	0.89917	1.0	D	0.87578	0.998	T	0.71069	-0.4699	10	0.48119	T	0.1	-13.677	3.3983	0.07313	0.2729:0.2189:0.5082:0.0	.	210	E3VLC8	.	K	210;176;210	ENSP00000361400:N210K;ENSP00000361402:N210K	ENSP00000361400:N210K	N	-	3	2	SFTPA2	80987088	0.986000	0.35501	0.997000	0.53966	0.179000	0.23085	-0.134000	0.10436	-0.099000	0.12263	-0.714000	0.03626	AAC		0.547	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		8	1418	0	0	0	1	0	8	1418				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	385	0	0	0	1	0	6	385				
INPP4A	3631	broad.mit.edu	37	2	99169316	99169316	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:99169316G>A	ENST00000523221.1	+	13	1246	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409016.4_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000074304.5_Missense_Mutation_p.A416T			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	416					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGATCATCGCCCAGATCAA	0.517																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(1246-1248)Gcc>Acc		inositol polyphosphate-4-phosphatase, type I, 107kDa							80.0	77.0	78.0					2																	99169316		2005	4167	6172	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99169316G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1246G>A	2.37:g.99169316G>A	ENSP00000427722:p.Ala416Thr					INPP4A_ENST00000409016.3_Missense_Mutation_p.A416T|INPP4A_ENST00000523221.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron	p.A416T	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			15	1639	+			416					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.1246G>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847369	0.91277	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.03	5.03	0.67393	.	0.054882	0.64402	D	0.000001	T	0.25644	0.0624	L	0.40543	1.245	0.54753	D	0.999988	D;D;D;D	0.58268	0.959;0.978;0.982;0.982	B;B;P;P	0.47864	0.357;0.378;0.559;0.559	T	0.00790	-1.1565	10	0.36615	T	0.2	-24.8771	17.5362	0.87832	0.0:0.0:1.0:0.0	.	416;416;416;411	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	T	416;411;416;416;416;416	ENSP00000386704:A416T;ENSP00000386777:A411T;ENSP00000074304:A416T;ENSP00000442149:A416T;ENSP00000387294:A416T;ENSP00000427722:A416T	ENSP00000074304:A416T	A	+	1	0	INPP4A	98535748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.492000	0.81482	2.608000	0.88229	0.655000	0.94253	GCC		0.517	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		8	140	0	0	0	1	0	8	140				
NEB	4703	broad.mit.edu	37	2	152586137	152586137	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:152586137G>A	ENST00000172853.10	-	4	217	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S	NEB_ENST00000409198.1_Missense_Mutation_p.P24S|NEB_ENST00000427231.2_Missense_Mutation_p.P24S|NEB_ENST00000604864.1_Missense_Mutation_p.P24S|NEB_ENST00000603639.1_Missense_Mutation_p.P24S|NEB_ENST00000397345.3_Missense_Mutation_p.P24S			P20929	NEBU_HUMAN	nebulin	24					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCTCTCCCGGCACCTCTTCG	0.498																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(70-72)Ccg>Tcg		nebulin							120.0	117.0	118.0					2																	152586137		1984	4158	6142	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152586137G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.70C>T	2.37:g.152586137G>A	ENSP00000172853:p.Pro24Ser					NEB_ENST00000427231.2_Missense_Mutation_p.P24S|NEB_ENST00000409198.1_Missense_Mutation_p.P24S|NEB_ENST00000603639.1_Missense_Mutation_p.P24S|NEB_ENST00000604864.1_Missense_Mutation_p.P24S|NEB_ENST00000172853.10_Missense_Mutation_p.P24S	p.P24S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	4	272	-			24					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.70C>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.337225	0.81911	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.09723	2.98;2.95;2.95;2.98	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000011	T	0.18800	0.0451	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.08269	-1.0730	10	0.14252	T	0.57	.	15.055	0.71908	0.0:0.0:1.0:0.0	.	24	P20929	NEBU_HUMAN	S	24	ENSP00000386259:P24S;ENSP00000380505:P24S;ENSP00000416578:P24S;ENSP00000172853:P24S	ENSP00000172853:P24S	P	-	1	0	NEB	152294383	0.999000	0.42202	0.998000	0.56505	0.901000	0.52897	4.866000	0.63005	2.622000	0.88805	0.655000	0.94253	CCG		0.498	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	574	0	0	0	1	0	5	574				
MAGEB6	158809	broad.mit.edu	37	X	26212572	26212572	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:26212572G>A	ENST00000379034.1	+	2	758	c.609G>A	c.(607-609)gcG>gcA	p.A203A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	203	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A203A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCACGTTGGCGCAATTCCTGC	0.478																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.A203A(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(607-609)gcG>gcA		melanoma antigen family B, 6							85.0	72.0	76.0					X																	26212572		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212572G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.609G>A	X.37:g.26212572G>A							p.A203A	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	758	+			203			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.609G>A	CCDS14217.1																																																																																				0.478	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		5	574	0	0	0	1	0	5	574				
SYNPO2L	79933	broad.mit.edu	37	10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577																																						ENST00000394810.2																			3	Substitution - Missense(3)	p.R627W(2)|p.R851W(1)	kidney(2)|large_intestine(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2551-2553)Cgg>Tgg		synaptopodin 2-like							59.0	70.0	66.0					10																	75406859		2201	4296	6497	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406859G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2551C>T	10.37:g.75406859G>A	ENSP00000378289:p.Arg851Trp					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	p.R851W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2700	-	Prostate(51;0.0112)		851			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2551C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172756	0.57584	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.98	5.08	3.02	0.34903	.	0.122449	0.53938	D	0.000053	T	0.49966	0.1588	L	0.59436	1.845	0.36226	D	0.852342	D;D	0.89917	1.0;1.0	D;D	0.72625	0.952;0.978	T	0.64210	-0.6461	10	0.72032	D	0.01	-15.751	14.6607	0.68868	0.0:0.0:0.653:0.347	.	851;627	Q9H987;Q9H987-2	SYP2L_HUMAN;.	W	627;851	ENSP00000361964:R627W;ENSP00000378289:R851W	ENSP00000361964:R627W	R	-	1	2	SYNPO2L	75076865	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.600000	0.36762	1.302000	0.44855	0.561000	0.74099	CGG		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		7	735	0	0	0	1	0	7	735				
ADAMTS16	170690	broad.mit.edu	37	5	5182355	5182355	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:5182355C>A	ENST00000274181.7	+	4	838	c.700C>A	c.(700-702)Cac>Aac	p.H234N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H234N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	234					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAACCCCTGCACAGCAGCGA	0.532																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(700-702)Cac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 16							68.0	73.0	71.0					5																	5182355		2091	4232	6323	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5182355C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.700C>A	5.37:g.5182355C>A	ENSP00000274181:p.His234Asn					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H234N	p.H234N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			4	838	+			234					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.700C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	8.922	0.961376	0.18583	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61392	0.19;0.11	5.04	-2.03	0.07365	.	0.772006	0.11949	N	0.513896	T	0.41627	0.1167	L	0.45581	1.43	0.09310	N	1	B;B;B	0.17038	0.011;0.004;0.02	B;B;B	0.17098	0.011;0.009;0.017	T	0.29488	-1.0010	10	0.15952	T	0.53	.	5.9596	0.19293	0.3613:0.5011:0.0:0.1375	.	234;234;234	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	N	234	ENSP00000274181:H234N;ENSP00000421631:H234N	ENSP00000274181:H234N	H	+	1	0	ADAMTS16	5235355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.111000	0.15458	-0.120000	0.11809	-0.188000	0.12872	CAC		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		159	300	1	0	1.09846e-41	1	1.20153e-41	159	300				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.H897H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		OTU domain containing 4							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G						OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H	p.H897H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2828	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		6	775	0	0	0	1	0	6	775				
PIGQ	9091	broad.mit.edu	37	16	633027	633027	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:633027C>A	ENST00000026218.5	+	10	1764	c.1676C>A	c.(1675-1677)gCa>gAa	p.A559E	PIGQ_ENST00000321878.5_Missense_Mutation_p.Q580K|PIGQ_ENST00000409527.2_Missense_Mutation_p.Q580K	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	559					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AGGGGACAAGCAGGACTGAGG	0.667																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1738-1740)Cag>Aag		phosphatidylinositol glycan anchor biosynthesis, class Q							55.0	57.0	56.0					16																	633027		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:633027C>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1676C>A	16.37:g.633027C>A	ENSP00000026218:p.Ala559Glu					PIGQ_ENST00000409527.2_Missense_Mutation_p.Q580K|PIGQ_ENST00000026218.5_Missense_Mutation_p.A559E	p.Q580K	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			11	1897	+		Hepatocellular(780;0.00335)	0					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1738C>A	CCDS10411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.93|12.93	2.085822|2.085822	0.36758|0.36758	.|.	.|.	ENSG00000007541|ENSG00000007541	ENST00000026218|ENST00000409527;ENST00000321878;ENST00000540241	T|T;T	0.22945|0.44482	1.93|0.92;0.92	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	1.882170|.	0.02546|.	N|.	0.095120|.	T|T	0.28995|0.28995	0.0720|0.0720	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;P|B	0.89917|0.23249	1.0;0.506|0.082	D;B|B	0.76575|0.24269	0.988;0.044|0.052	T|T	0.12656|0.12656	-1.0539|-1.0539	10|9	0.72032|0.62326	D|D	0.01|0.03	-6.9865|-6.9865	18.0399|18.0399	0.89316|0.89316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	129;559|580	B3KRR7;Q9BRB3|Q9BRB3-2	.;PIGQ_HUMAN|.	E|K	559|580;580;138	ENSP00000026218:A559E|ENSP00000386760:Q580K;ENSP00000326674:Q580K	ENSP00000026218:A559E|ENSP00000326674:Q580K	A|Q	+|+	2|1	0|0	PIGQ|PIGQ	573028|573028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	1.786000|1.786000	0.38694|0.38694	2.618000|2.618000	0.88619|0.88619	0.462000|0.462000	0.41574|0.41574	GCA|CAG		0.667	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		27	548	1	0	1.32181e-22	1	1.4352e-22	27	548				
PCDHAC1	56135	broad.mit.edu	37	5	140308195	140308195	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:140308195C>T	ENST00000253807.2	+	1	1718	c.1718C>T	c.(1717-1719)tCt>tTt	p.S573F	PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S573F|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	573	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCCGCTCTGCCAGGACT	0.488																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1717-1719)tCt>tTt									110.0	115.0	113.0					5																	140308195		2203	4300	6503	SO:0001583	missense	0							g.chr5:140308195C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1718C>T	5.37:g.140308195C>T	ENSP00000253807:p.Ser573Phe					PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S573F|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron	p.S573F	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1718	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1718C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	4.946	0.175719	0.09391	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.60920	0.15;0.15	5.95	1.95	0.26073	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.61400	0.2344	M	0.83483	2.645	0.22226	N	0.999273	B;B	0.31209	0.313;0.043	B;B	0.41236	0.351;0.047	T	0.59101	-0.7517	9	0.49607	T	0.09	.	2.6964	0.05136	0.2432:0.478:0.1188:0.1601	.	573;573	Q9H158;Q9H158-2	PCDC1_HUMAN;.	F	573	ENSP00000386356:S573F;ENSP00000253807:S573F	ENSP00000253807:S573F	S	+	2	0	PCDHAC1	140288379	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.405000	0.21015	0.376000	0.24707	0.563000	0.77884	TCT		0.488	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		10	534	0	0	0	1	0	10	534				
MOV10	4343	broad.mit.edu	37	1	113236698	113236698	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:113236698T>C	ENST00000413052.2	+	8	1589	c.1199T>C	c.(1198-1200)cTt>cCt	p.L400P	MOV10_ENST00000369645.1_Missense_Mutation_p.L400P|MOV10_ENST00000369644.1_Missense_Mutation_p.L344P|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.L400P|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	400					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTGTTTGCCCTTTTGTCCTCG	0.562																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1030-1032)cTt>cCt		Mov10, Moloney leukemia virus 10, homolog (mouse)							121.0	111.0	114.0					1																	113236698		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113236698T>C	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1199T>C	1.37:g.113236698T>C	ENSP00000399797:p.Leu400Pro					MOV10_ENST00000369645.1_Missense_Mutation_p.L400P|MOV10_ENST00000357443.2_Missense_Mutation_p.L400P|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.L400P|MOV10_ENST00000468624.1_3'UTR	p.L344P			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	9	2060	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	400					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1031T>C	CCDS853.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389758	0.25118	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91686	-2.88;-2.88;-2.89;-2.88	5.25	2.89	0.33648	.	1.050180	0.07329	N	0.878903	T	0.73892	0.3645	N	0.22421	0.69	0.09310	N	1	B;P;B	0.48503	0.01;0.911;0.099	B;B;B	0.41813	0.044;0.367;0.102	T	0.66956	-0.5792	10	0.27785	T	0.31	-0.3613	4.3319	0.11067	0.0:0.2327:0.3233:0.444	.	344;400;400	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	P	400;400;400;344;400;338	ENSP00000399797:L400P;ENSP00000358659:L400P;ENSP00000358658:L344P;ENSP00000350028:L400P	ENSP00000285733:L400P	L	+	2	0	MOV10	113038221	0.000000	0.05858	0.006000	0.13384	0.919000	0.55068	0.095000	0.15127	0.440000	0.26502	0.459000	0.35465	CTT		0.562	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		5	474	0	0	0	1	0	5	474				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	615	0	0	0	1	0	12	615				
CD97	976	broad.mit.edu	37	19	14515219	14515219	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:14515219G>A	ENST00000242786.5	+	13	1554	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	CD97_ENST00000358600.3_Missense_Mutation_p.E399K|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.E443K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	492	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCACGGCAGGAGCTGCTCTG	0.642																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1474-1476)Gag>Aag		CD97 molecule							87.0	92.0	91.0					19																	14515219		2203	4298	6501	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14515219G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1474G>A	19.37:g.14515219G>A	ENSP00000242786:p.Glu492Lys					CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.E399K|CD97_ENST00000357355.3_Missense_Mutation_p.E443K	p.E492K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			13	1554	+			492			GPS.		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1474G>A	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118085	0.56505	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.70399	-0.48;-0.38;-0.0	5.22	4.19	0.49359	GPS domain (2);	.	.	.	.	T	0.68668	0.3026	L	0.35487	1.065	0.19775	N	0.999955	D;D;B	0.69078	0.987;0.997;0.176	P;P;B	0.61592	0.814;0.891;0.122	T	0.57004	-0.7885	9	0.02654	T	1	.	11.2011	0.48741	0.0884:0.0:0.9116:0.0	.	399;443;492	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	K	492;443;399;442	ENSP00000242786:E492K;ENSP00000349918:E443K;ENSP00000351413:E399K	ENSP00000242786:E492K	E	+	1	0	CD97	14376219	0.983000	0.35010	0.187000	0.23214	0.280000	0.26924	1.237000	0.32695	1.435000	0.47434	0.655000	0.94253	GAG		0.642	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		207	414	0	0	0	1	0	207	414				
TUBB8P7	197331	broad.mit.edu	37	16	90162379	90162379	+	RNA	SNP	A	A	G	rs567541195	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:90162379A>G	ENST00000564451.1	+	0	1732				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGGGAATAATACGGCCATCCA	0.522													.|||	3	0.000599042	0.0	0.0043	5008	,	,		20782	0.0		0.0	False		,,,				2504	0.0					ENST00000567960.1																			0																																																			0							g.chr16:90162379A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162379A>G						TUBB8P7_ENST00000564451.1_RNA								0	1115	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	667	0	0	0	1	0	6	667				
CECR5	27440	broad.mit.edu	37	22	17630518	17630518	+	Missense_Mutation	SNP	G	G	A	rs202011991		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:17630518G>A	ENST00000336737.4	-	2	269	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	CECR5_ENST00000155674.5_Missense_Mutation_p.R52W|CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	82						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				ACGGGCACCCGCAGCTGCCCC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16780	0.001		0.0	False		,,,				2504	0.0					ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(244-246)Cgg>Tgg		cat eye syndrome chromosome region, candidate 5							78.0	82.0	81.0					22																	17630518		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17630518G>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.244C>T	22.37:g.17630518G>A	ENSP00000337358:p.Arg82Trp					CECR5_ENST00000480451.1_5'UTR|CECR5_ENST00000155674.5_Missense_Mutation_p.R52W|CECR5_ENST00000399852.3_Intron	p.R82W	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			2	269	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	82					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.244C>T	CCDS33595.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.89	3.248644	0.59103	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.31247	1.5;1.5	4.9	1.4	0.22301	HAD-like domain (2);	0.220230	0.45867	D	0.000323	T	0.53802	0.1819	M	0.88979	2.995	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	P;D	0.64877	0.886;0.93	T	0.45366	-0.9266	10	0.72032	D	0.01	-20.097	8.9996	0.36074	0.0742:0.0:0.508:0.4178	.	52;82	Q9BXW7-2;Q9BXW7	.;CECR5_HUMAN	W	52;82	ENSP00000155674:R52W;ENSP00000337358:R82W	ENSP00000155674:R52W	R	-	1	2	CECR5	16010518	0.693000	0.27728	0.998000	0.56505	0.977000	0.68977	0.787000	0.26858	0.641000	0.30601	0.561000	0.74099	CGG		0.587	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		8	987	0	0	0	1	0	8	987				
LRCH1	23143	broad.mit.edu	37	13	47266759	47266759	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:47266759G>A	ENST00000389798.3	+	8	1300	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	LRCH1_ENST00000389797.3_Missense_Mutation_p.R368H|LRCH1_ENST00000311191.6_Missense_Mutation_p.R368H	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	368										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TCGTGCCATCGCCTTAGCCCC	0.408																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1102-1104)cGc>cAc		leucine-rich repeats and calponin homology (CH) domain containing 1							129.0	106.0	114.0					13																	47266759		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47266759G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1103G>A	13.37:g.47266759G>A	ENSP00000374448:p.Arg368His					LRCH1_ENST00000389797.3_Missense_Mutation_p.R368H|LRCH1_ENST00000389798.3_Missense_Mutation_p.R368H	p.R368H	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	8	1332	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	368					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1103G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771346	0.31320	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.51574	0.7;0.75;0.76	5.93	0.948	0.19561	.	0.393039	0.29225	N	0.012771	T	0.32406	0.0828	L	0.41961	1.31	0.26342	N	0.977352	B;B;B;B	0.21905	0.037;0.002;0.062;0.006	B;B;B;B	0.17979	0.009;0.002;0.02;0.001	T	0.14727	-1.0462	10	0.33940	T	0.23	-16.3864	4.6171	0.12432	0.4322:0.0:0.4239:0.1439	.	368;368;368;368	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	H	368	ENSP00000308493:R368H;ENSP00000374448:R368H;ENSP00000374447:R368H	ENSP00000308493:R368H	R	+	2	0	LRCH1	46164760	0.001000	0.12720	0.894000	0.35097	0.754000	0.42855	-0.287000	0.08388	-0.140000	0.11394	-0.136000	0.14681	CGC		0.408	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		77	257	0	0	0	1	0	77	257				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		9	200	0	0	0	1	0	9	200				
MEGF11	84465	broad.mit.edu	37	15	66210374	66210374	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:66210374G>A	ENST00000409699.2	-	16	2188	c.2016C>T	c.(2014-2016)aaC>aaT	p.N672N	MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000395614.1_De_novo_Start_OutOfFrame			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	672	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAGGTCCCGTTGTTGGCAC	0.612																																						ENST00000395614.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19								multiple EGF-like-domains 11							94.0	69.0	77.0					15																	66210374		2201	4299	6500	SO:0001819	synonymous_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66210374G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2016C>T	15.37:g.66210374G>A						MEGF11_ENST00000409699.2_Silent_p.N672N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000360698.4_Silent_p.N672N				A6BM72	MEG11_HUMAN			0	2076	-								Q17R86|Q6UXS5|Q8ND91|Q96KG6	Translation_Start_Site	SNP	ENST00000409699.2	37		CCDS10213.2																																																																																				0.612	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		48	202	0	0	0	1	0	48	202				
UBE3C	9690	broad.mit.edu	37	7	157049683	157049683	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:157049683G>A	ENST00000348165.5	+	22	3386	c.3026G>A	c.(3025-3027)cGc>cAc	p.R1009H		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1009	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1009H(2)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAAGAAAAGCGCAAACTGCTG	0.423																																						ENST00000348165.5																			2	Substitution - Missense(2)	p.R1009H(2)	urinary_tract(1)|kidney(1)	central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(3025-3027)cGc>cAc		ubiquitin protein ligase E3C							168.0	160.0	163.0					7																	157049683		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157049683G>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.3026G>A	7.37:g.157049683G>A	ENSP00000309198:p.Arg1009His						p.R1009H	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	22	3386	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	1009			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.3026G>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106411	0.77096	.	.	ENSG00000009335	ENST00000348165	T	0.60299	0.2	5.67	5.67	0.87782	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80444	0.4624	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	T	0.79478	-0.1787	10	0.33141	T	0.24	.	19.7785	0.96405	0.0:0.0:1.0:0.0	.	1009;862	Q15386;B4DHJ9	UBE3C_HUMAN;.	H	1009	ENSP00000309198:R1009H	ENSP00000309198:R1009H	R	+	2	0	UBE3C	156742444	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	9.261000	0.95576	2.667000	0.90743	0.563000	0.77884	CGC		0.423	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		6	684	0	0	0	1	0	6	684				
LRRC16B	90668	broad.mit.edu	37	14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787						cytoplasm (GO:0005737)		p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612																																						ENST00000342740.5																			3	Substitution - Missense(3)	p.R787W(3)	prostate(2)|lung(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2359-2361)Cgg>Tgg		leucine rich repeat containing 16B							73.0	63.0	67.0					14																	24530760		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24530760C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2359C>T	14.37:g.24530760C>T	ENSP00000340467:p.Arg787Trp					LRRC16B_ENST00000334420.7_5'UTR	p.R787W	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	27	2513	+			787					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2359C>T	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955757	0.53293	.	.	ENSG00000186648	ENST00000342740	T	0.15718	2.4	5.27	3.36	0.38483	.	0.174329	0.40144	N	0.001165	T	0.21962	0.0529	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.62014	0.897	T	0.03166	-1.1065	10	0.87932	D	0	-14.9968	10.8426	0.46724	0.3396:0.6604:0.0:0.0	.	787	Q8ND23	LR16B_HUMAN	W	787	ENSP00000340467:R787W	ENSP00000340467:R787W	R	+	1	2	LRRC16B	23600600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.748000	0.26305	1.430000	0.47334	-0.182000	0.12963	CGG		0.612	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		6	170	0	0	0	1	0	6	170				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	218	0	0	0	1	0	5	218				
NFAT5	10725	broad.mit.edu	37	16	69681289	69681289	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:69681289G>C	ENST00000354436.2	+	3	876	c.558G>C	c.(556-558)atG>atC	p.M186I	NFAT5_ENST00000567239.1_Missense_Mutation_p.M204I|NFAT5_ENST00000432919.1_Missense_Mutation_p.M204I|NFAT5_ENST00000349945.1_Missense_Mutation_p.M110I|NFAT5_ENST00000566899.1_Missense_Mutation_p.M110I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M110I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	186					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCAGTAACATGAGCACCAGTT	0.488																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(328-330)atG>atC		nuclear factor of activated T-cells 5, tonicity-responsive							102.0	94.0	97.0					16																	69681289		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69681289G>C	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.558G>C	16.37:g.69681289G>C	ENSP00000346420:p.Met186Ile					NFAT5_ENST00000354436.2_Missense_Mutation_p.M186I|NFAT5_ENST00000432919.1_Missense_Mutation_p.M204I|NFAT5_ENST00000567239.1_Missense_Mutation_p.M204I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M110I|NFAT5_ENST00000566899.1_Missense_Mutation_p.M110I	p.M110I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			5	1882	+			186					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.330G>C	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815783	0.32145	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.34	5.34	0.76211	.	0.077300	0.85682	D	0.000000	T	0.19886	0.0478	N	0.24115	0.695	0.58432	D	0.999999	B;B;P	0.34699	0.055;0.055;0.464	B;B;B	0.32724	0.039;0.039;0.151	T	0.03684	-1.1013	10	0.24483	T	0.36	-2.0229	19.0353	0.92974	0.0:0.0:1.0:0.0	.	204;186;204	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	204;204;110;186;110	ENSP00000396538:M204I;ENSP00000338806:M110I;ENSP00000346420:M186I;ENSP00000377343:M110I	ENSP00000338806:M110I	M	+	3	0	NFAT5	68238790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.636000	0.74299	2.480000	0.83734	0.650000	0.86243	ATG		0.488	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		4	400	0	0	0	1	0	4	400				
ANK3	288	broad.mit.edu	37	10	61831534	61831534	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:61831534G>A	ENST00000280772.2	-	37	9296	c.9105C>T	c.(9103-9105)tgC>tgT	p.C3035C	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3035					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAGAGGTGGGCATAAACCTA	0.418																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9103-9105)tgC>tgT		ankyrin 3, node of Ranvier (ankyrin G)							79.0	87.0	85.0					10																	61831534		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831534G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9105C>T	10.37:g.61831534G>A						ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.C3035C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9296	-			3035					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.9105C>T	CCDS7258.1																																																																																				0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	712	0	0	0	1	0	6	712				
SH3PXD2A	9644	broad.mit.edu	37	10	105362640	105362640	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:105362640G>A	ENST00000369774.4	-	15	2611	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	779					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCTGGCGCCGTAAAGTGCTG	0.647																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2335-2337)Cgg>Tgg		SH3 and PX domains 2A							261.0	251.0	254.0					10																	105362640		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362640G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2335C>T	10.37:g.105362640G>A	ENSP00000358789:p.Arg779Trp					SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W	p.R779W			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2611	-		Colorectal(252;0.0815)|Breast(234;0.131)	779					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2335C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.972366|2.972366	0.53614|0.53614	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.65916|.	-0.17;-0.14;0.02;-0.18|.	5.11|5.11	4.18|4.18	0.49190|0.49190	.|.	0.054825|.	0.64402|.	D|.	0.000001|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.993;0.993;0.995;0.997|.	T|T	0.60393|0.60393	-0.7272|-0.7272	10|5	0.54805|.	T|.	0.06|.	-25.6182|-25.6182	13.4768|13.4768	0.61314|0.61314	0.0:0.0:0.7006:0.2994|0.0:0.0:0.7006:0.2994	.|.	779;628;624;751|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	W|M	779;751;586;694;646;614|705	ENSP00000358789:R779W;ENSP00000348215:R751W;ENSP00000443663:R646W;ENSP00000441514:R614W|.	ENSP00000318135:R586W|.	R|T	-|-	1|2	2|0	SH3PXD2A|SH3PXD2A	105352630|105352630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.736000|1.736000	0.38187|0.38187	1.107000|1.107000	0.41642|0.41642	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.647	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		8	1570	0	0	0	1	0	8	1570				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			8	189	1	0	0.000274275	1	0.000279963	8	189				
FLG2	388698	broad.mit.edu	37	1	152326017	152326017	+	Missense_Mutation	SNP	C	C	A	rs200173482		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:152326017C>A	ENST00000388718.5	-	3	4317	c.4245G>T	c.(4243-4245)agG>agT	p.R1415S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1415					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTTGTCCTGGACCCTC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4243-4245)agG>agT		filaggrin family member 2							268.0	254.0	259.0					1																	152326017		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326017C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4245G>T	1.37:g.152326017C>A	ENSP00000373370:p.Arg1415Ser					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.R1415S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1415					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4245G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	1.080	-0.667351	0.03428	.	.	ENSG00000143520	ENST00000388718	T	0.03663	3.85	3.86	-7.71	0.01254	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.47886	-0.9082	9	0.07325	T	0.83	0.4423	1.4492	0.02371	0.1718:0.1676:0.3822:0.2784	.	1415	Q5D862	FILA2_HUMAN	S	1415	ENSP00000373370:R1415S	ENSP00000373370:R1415S	R	-	3	2	FLG2	150592641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-10.701000	0.00005	-2.959000	0.00290	-0.514000	0.04452	AGG		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	1473	1	0	8.12818e-05	1	8.33515e-05	8	1473				
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	lincRNA	SNP	C	C	A	rs199554501	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:195395402C>A	ENST00000445430.1	+	0	809									long intergenic non-protein coding RNA 969																		TACGGGCGCACCTACTTGAGC	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195395402C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395402C>A														0	809	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			10	268	1	0	3.65163e-15	1	3.94554e-15	10	268				
WIF1	11197	broad.mit.edu	37	12	65471603	65471603	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:65471603C>G	ENST00000286574.4	-	3	694	c.320G>C	c.(319-321)cGc>cCc	p.R107P		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	107	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		ATCCAGGGAGCGCAAGGACAG	0.498			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(319-321)cGc>cCc		WNT inhibitory factor 1							120.0	101.0	108.0					12																	65471603		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65471603C>G	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.320G>C	12.37:g.65471603C>G	ENSP00000286574:p.Arg107Pro						p.R107P	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	3	694	-			107			WIF.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.320G>C	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383858	0.82792	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.45276	0.9;0.9	5.35	5.35	0.76521	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	D	0.63283	0.913	T	0.37407	-0.9707	9	.	.	.	.	14.6498	0.68789	0.0:0.928:0.0:0.072	.	107	Q9Y5W5	WIF1_HUMAN	P	107;45	ENSP00000286574:R107P;ENSP00000442063:R45P	.	R	-	2	0	WIF1	63757870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.581000	0.46077	2.689000	0.91719	0.650000	0.86243	CGC		0.498	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			56	74	0	0	0	1	0	56	74				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		19	680	0	0	0	1	0	19	680				
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCCCATCACCGCGACCATGGC	0.582																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711466G>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711466G>T								NR_003264.2						0	481	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.582	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	349	1	0	0.000442599	1	0.000450739	7	349				
SEZ6L	23544	broad.mit.edu	37	22	26688941	26688941	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:26688941G>A	ENST00000248933.6	+	2	759	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	SEZ6L_ENST00000343706.4_Missense_Mutation_p.G222R|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G222R|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000403121.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	222					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.G222K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCAGAACCCGGGGAGCCTGG	0.642																																						ENST00000529632.2																			1	Substitution - Missense(1)	p.G222K(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(664-666)Ggg>Agg		seizure related 6 homolog (mouse)-like							34.0	39.0	38.0					22																	26688941		2198	4298	6496	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688941G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.664G>A	22.37:g.26688941G>A	ENSP00000248933:p.Gly222Arg					SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G222R|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G222R	p.G222R	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	860	+			222					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.664G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552259	0.27739	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.26373	1.98;2.1;2.18;1.98;1.74	4.21	3.17	0.36434	.	0.807228	0.10049	U	0.722474	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	0.999994	B;B;B;B;B;B	0.28667	0.047;0.047;0.219;0.219;0.01;0.01	B;B;B;B;B;B	0.22880	0.013;0.008;0.042;0.042;0.003;0.003	T	0.19386	-1.0307	10	0.36615	T	0.2	.	12.2	0.54319	0.0:0.3302:0.6698:0.0	.	222;222;222;222;222;222	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	R	222	ENSP00000384772:G222R;ENSP00000437037:G222R;ENSP00000354185:G222R;ENSP00000248933:G222R;ENSP00000342661:G222R	ENSP00000248933:G222R	G	+	1	0	SEZ6L	25018941	0.138000	0.22547	0.016000	0.15963	0.054000	0.15201	0.882000	0.28186	0.870000	0.35726	0.405000	0.27470	GGG		0.642	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			18	428	0	0	0	1	0	18	428				
ADAMTS15	170689	broad.mit.edu	37	11	130332572	130332572	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:130332572G>T	ENST00000299164.2	+	4	1439	c.1439G>T	c.(1438-1440)tGc>tTc	p.C480F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	480	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CAGATGGTGTGCCAGACCCGC	0.627																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1438-1440)tGc>tTc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							75.0	72.0	73.0					11																	130332572		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130332572G>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1439G>T	11.37:g.130332572G>T	ENSP00000299164:p.Cys480Phe						p.C480F	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	4	1439	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	480			Disintegrin.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1439G>T	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754975	0.89843	.	.	ENSG00000166106	ENST00000299164	T	0.68765	-0.35	5.48	5.48	0.80851	.	.	.	.	.	D	0.87962	0.6310	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91263	0.5038	9	0.87932	D	0	.	19.3471	0.94367	0.0:0.0:1.0:0.0	.	480	Q8TE58	ATS15_HUMAN	F	480	ENSP00000299164:C480F	ENSP00000299164:C480F	C	+	2	0	ADAMTS15	129837782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.566000	0.86566	0.655000	0.94253	TGC		0.627	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		10	514	1	0	1.58986e-06	1	1.65331e-06	10	514				
NACA	4666	broad.mit.edu	37	12	57111810	57111810	+	Silent	SNP	T	T	G	rs2926745	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:57111810T>G	ENST00000454682.1	-	3	3785	c.3504A>C	c.(3502-3504)ccA>ccC	p.P1168P	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1168	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGCCCCTTTTGGGGGTGGGG	0.627			T	BCL6	NHL								-|||	26	0.00519169	0.0015	0.0014	5008	,	,		7107	0.0169		0.006	False		,,,				2504	0.0					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3502-3504)ccA>ccC		nascent polypeptide-associated complex alpha subunit							62.0	71.0	68.0					12																	57111810		1154	2693	3847	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111810T>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3504A>C	12.37:g.57111810T>G						NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	p.P1168P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3785	-			0						Silent	SNP	ENST00000454682.1	37	c.3504A>C																																																																																					0.627	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		10	822	0	0	0	1	0	10	822				
TRIM49	57093	broad.mit.edu	37	11	89531568	89531568	+	Silent	SNP	T	T	C	rs560492199	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K363K(3)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458													c|||	2	0.000399361	0.0008	0.0	5008	,	,		20193	0.001		0.0	False		,,,				2504	0.0					ENST00000329758.1																			3	Substitution - coding silent(3)	p.K363K(3)	endometrium(2)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(1087-1089)aaA>aaG		tripartite motif containing 49							74.0	79.0	77.0					11																	89531568		2195	4299	6494	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531568T>C	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1089A>G	11.37:g.89531568T>C						TRIM49_ENST00000532501.2_Silent_p.K286K	p.K363K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			8	1417	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	363			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.1089A>G	CCDS8287.1																																																																																				0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		4	180	0	0	0	1	0	4	180				
GRM3	2913	broad.mit.edu	37	7	86468833	86468833	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:86468833G>A	ENST00000361669.2	+	4	3102	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.R260H|GRM3_ENST00000536043.1_Missense_Mutation_p.R540H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	668					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGCATTGCCCGCATCTTCGAT	0.537																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2002-2004)cGc>cAc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						114.0	107.0	109.0					7																	86468833		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86468833G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2003G>A	7.37:g.86468833G>A	ENSP00000355316:p.Arg668His					GRM3_ENST00000546348.1_Missense_Mutation_p.R260H|GRM3_ENST00000536043.1_Missense_Mutation_p.R540H|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron	p.R668H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3102	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		668					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2003G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593198	0.86953	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89746	-2.56;-2.56;-2.56	5.69	5.69	0.88448	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96133	0.9094	10	0.87932	D	0	.	18.7888	0.91965	0.0:0.0:1.0:0.0	.	260;540;668	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	H	668;260;540	ENSP00000355316:R668H;ENSP00000444064:R260H;ENSP00000441407:R540H	ENSP00000355316:R668H	R	+	2	0	GRM3	86306769	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.683000	0.91414	0.563000	0.77884	CGC		0.537	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			6	701	0	0	0	1	0	6	701				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	845	0	0	0	1	0	6	845				
SPDYE3	441272	broad.mit.edu	37	7	99912180	99912180	+	Silent	SNP	G	G	A	rs858635		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:99912180G>A	ENST00000332397.6	+	6	1192	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	336								p.P336P(10)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCAGCCCCCCGCGTAGGTCCC	0.577																																						ENST00000332397.6																			10	Substitution - coding silent(10)	p.P336P(10)	endometrium(8)|kidney(2)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1006-1008)ccG>ccA		speedy/RINGO cell cycle regulator family member E3																																				SO:0001819	synonymous_variant	441272							g.chr7:99912180G>A	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1008G>A	7.37:g.99912180G>A						SPDYE3_ENST00000437326.2_5'UTR	p.P336P	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			6	1192	+			336					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1008G>A	CCDS47658.2																																																																																				0.577	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		5	336	0	0	0	1	0	5	336				
FBXO43	286151	broad.mit.edu	37	8	101153416	101153416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:101153416G>A	ENST00000428847.2	-	2	1382	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	356					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTAGTTCTTGAAAAGAACCC	0.463																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1066-1068)Caa>Taa		F-box protein 43							121.0	113.0	116.0					8																	101153416		1860	4094	5954	SO:0001587	stop_gained	286151				meiosis		zinc ion binding	g.chr8:101153416G>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1066C>T	8.37:g.101153416G>A	ENSP00000403293:p.Gln356*						p.Q356*	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	1382	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		356						Nonsense_Mutation	SNP	ENST00000428847.2	37	c.1066C>T	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	37	6.453024	0.97581	.	.	ENSG00000156509	ENST00000428847	.	.	.	5.57	4.68	0.58851	.	0.342235	0.34314	N	0.004079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-1.0291	16.6488	0.85183	0.0:0.13:0.87:0.0	.	.	.	.	X	356	.	ENSP00000403293:Q356X	Q	-	1	0	FBXO43	101222592	1.000000	0.71417	0.989000	0.46669	0.445000	0.32107	7.277000	0.78572	1.444000	0.47605	0.655000	0.94253	CAA		0.463	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		156	440	0	0	0	1	0	156	440				
TMPRSS15	5651	broad.mit.edu	37	21	19666604	19666604	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:19666604G>A	ENST00000284885.3	-	21	2502	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	823	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CGCAGTGTGCGGCGGACACCA	0.582																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2467-2469)gcC>gcT		transmembrane protease, serine 15							60.0	60.0	60.0					21																	19666604		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666604G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2469C>T	21.37:g.19666604G>A							p.A823A	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2502	-			823			Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2469C>T	CCDS13571.1																																																																																				0.582	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		49	251	0	0	0	1	0	49	251				
SNHG14	104472715	broad.mit.edu	37	15	25446513	25446513	+	RNA	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:25446513G>A	ENST00000424208.1	+	0	1988				SNORD115-17_ENST00000364612.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAGAGGTGATGACTTAAAAAT	0.507																																						ENST00000424208.1																			0																				336.0	342.0	340.0					15																	25446513		876	1991	2867			0							g.chr15:25446513G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25446513G>A						SNHG14_ENST00000424333.1_RNA|SNORD115-17_ENST00000364612.1_RNA		NR_003305.1						0	1988	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.507	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			42	1064	0	0	0	1	0	42	1064				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	581	0	0	0	1	0	6	581				
CLK2	1196	broad.mit.edu	37	1	155233761	155233761	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:155233761C>G	ENST00000368361.4	-	12	1612	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.E432Q|SCAMP3_ENST00000355379.3_5'Flank|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000355560.4_Missense_Mutation_p.E431Q|CLK2_ENST00000536801.1_Missense_Mutation_p.E433Q			P49760	CLK2_HUMAN	CDC-like kinase 2	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGCAGTTCTCACGAACATAG	0.542								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1297-1299)Gag>Cag	Other conserved DNA damage response genes	CDC-like kinase 2							88.0	96.0	93.0					1																	155233761		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155233761C>G	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1297G>C	1.37:g.155233761C>G	ENSP00000357345:p.Glu433Gln					CLK2_ENST00000361168.5_Missense_Mutation_p.E432Q|CLK2_ENST00000355560.4_Missense_Mutation_p.E431Q|CLK2_ENST00000536801.1_Missense_Mutation_p.E433Q|CLK2_ENST00000497188.1_5'UTR	p.E433Q			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		12	1612	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		433			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.1297G>C		.	.	.	.	.	.	.	.	.	.	.	18.88	3.717852	0.68844	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	4.2	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100176	0.64402	D	0.000002	T	0.09905	0.0243	N	0.21324	0.655	0.80722	D	1	B;B	0.31174	0.114;0.311	B;B	0.35770	0.093;0.21	T	0.11421	-1.0588	10	0.54805	T	0.06	.	15.6036	0.76646	0.0:1.0:0.0:0.0	.	433;432	P49760;P49760-3	CLK2_HUMAN;.	Q	432;433;431;205;433	ENSP00000354856:E432Q;ENSP00000357345:E433Q;ENSP00000347759:E431Q;ENSP00000441023:E433Q	ENSP00000347759:E431Q	E	-	1	0	CLK2	153500385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.334000	0.79466	0.561000	0.74099	GAG		0.542	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		140	590	0	0	0	1	0	140	590				
GRM1	2911	broad.mit.edu	37	6	146350993	146350993	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:146350993G>A	ENST00000282753.1	+	1	575	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	GRM1_ENST00000392299.2_Missense_Mutation_p.V114M|GRM1_ENST00000492807.2_Missense_Mutation_p.V114M|GRM1_ENST00000355289.4_Missense_Mutation_p.V114M|GRM1_ENST00000361719.2_Missense_Mutation_p.V114M|GRM1_ENST00000507907.1_Missense_Mutation_p.V114M			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	114					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCACTCTTCCGTGGCTCTGGA	0.567																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(340-342)Gtg>Atg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						48.0	47.0	48.0					6																	146350993		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350993G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.340G>A	6.37:g.146350993G>A	ENSP00000282753:p.Val114Met					GRM1_ENST00000282753.1_Missense_Mutation_p.V114M|GRM1_ENST00000355289.4_Missense_Mutation_p.V114M|GRM1_ENST00000492807.2_Missense_Mutation_p.V114M|GRM1_ENST00000507907.1_Missense_Mutation_p.V114M|GRM1_ENST00000361719.2_Missense_Mutation_p.V114M	p.V114M			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	810	+		Ovarian(120;0.0387)	114					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.340G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326441	0.81690	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.69	5.69	0.88448	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.997	T	0.71593	-0.4546	10	0.54805	T	0.06	.	19.8011	0.96507	0.0:0.0:1.0:0.0	.	114;114;109;114	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	M	114	ENSP00000354896:V114M;ENSP00000376119:V114M;ENSP00000424095:V114M;ENSP00000282753:V114M;ENSP00000347437:V114M;ENSP00000425599:V114M	ENSP00000282753:V114M	V	+	1	0	GRM1	146392686	1.000000	0.71417	0.978000	0.43139	0.966000	0.64601	9.869000	0.99810	2.679000	0.91253	0.561000	0.74099	GTG		0.567	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		21	155	0	0	0	1	0	21	155				
TRAV6	6956	broad.mit.edu	37	14	22237224	22237224	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:22237224C>T	ENST00000390428.3	+	0	308									T cell receptor alpha variable 6																		GAAAGAAAGACTGAAGGTCAC	0.453																																						ENST00000390428.3																			0																				117.0	117.0	117.0					14																	22237224		1953	4144	6097			0							g.chr14:22237224C>T	Z49060		14q11.2	2012-02-07			ENSG00000211780	ENSG00000211780		"""T cell receptors / TRA locus"""	12144	other	T cell receptor gene				TCRAV5S1		8188290, 8530018	Standard	NG_001332		Approved				OTTHUMG00000168984		14.37:g.22237224C>T														0	308	+									RNA	SNP	ENST00000390428.3	37																																																																																						0.453	TRAV6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401882.1	NG_001332		8	489	0	0	0	1	0	8	489				
CCDC18	343099	broad.mit.edu	37	1	93730295	93730295	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:93730295T>C	ENST00000343253.7	+	27	4221	c.3719T>C	c.(3718-3720)aTt>aCt	p.I1240T	RP4-717I23.3_ENST00000457025.1_RNA|CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.I1359T|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.I1241T|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000451302.2_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000602488.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000442860.1_RNA			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1240										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAGTGGAAGATTTCTGCTGAC	0.358																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(3718-3720)aTt>aCt		coiled-coil domain containing 18							90.0	83.0	85.0					1																	93730295		1845	4094	5939	SO:0001583	missense	343099							g.chr1:93730295T>C			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.3719T>C	1.37:g.93730295T>C	ENSP00000343377:p.Ile1240Thr					CCDC18_ENST00000401026.3_Missense_Mutation_p.I1241T|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|CCDC18_ENST00000338949.4_3'UTR|RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|CCDC18_ENST00000334652.5_3'UTR|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000451302.2_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000602488.1_RNA|CCDC18_ENST00000557479.1_Missense_Mutation_p.I1359T|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000427669.1_RNA	p.I1240T			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	27	4221	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	1240					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.3719T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.95|13.95	2.388693|2.388693	0.42308|0.42308	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.529395	.|0.19585	.|N	.|0.110755	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.29301	.|0.241;0.144	.|B;B	.|0.30782	.|0.058;0.12	T|T	0.12477|0.12477	-1.0546|-1.0546	5|9	.|0.22109	.|T	.|0.4	.|.	12.4669|12.4669	0.55764|0.55764	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|159;1359	.|Q5T9S4;G3V388	.|.;.	L|T	1294|1240;1241;1359	.|.	.|ENSP00000343377:I1240T	F|I	+|+	1|2	0|0	CCDC18|CCDC18	93502883|93502883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.540000|4.540000	0.60664|0.60664	2.208000|2.208000	0.71279|0.71279	0.482000|0.482000	0.46254|0.46254	TTT|ATT		0.358	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		5	581	0	0	0	1	0	5	581				
MNDA	4332	broad.mit.edu	37	1	158812091	158812091	+	Missense_Mutation	SNP	G	G	T	rs140390501		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:158812091G>T	ENST00000368141.4	+	2	409	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	50	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAAGATTACAGATTTGATGGA	0.338																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(148-150)Gat>Tat		myeloid cell nuclear differentiation antigen							95.0	100.0	98.0					1																	158812091		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158812091G>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.148G>T	1.37:g.158812091G>T	ENSP00000357123:p.Asp50Tyr					MNDA_ENST00000491210.1_3'UTR	p.D50Y	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			2	409	+	all_hematologic(112;0.0378)		50			DAPIN.			Missense_Mutation	SNP	ENST00000368141.4	37	c.148G>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856515	0.32791	.	.	ENSG00000163563	ENST00000368141	T	0.55052	0.54	3.51	-0.707	0.11245	Pyrin (2);	.	.	.	.	T	0.50599	0.1625	M	0.69358	2.11	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.35822	-0.9773	9	0.87932	D	0	-0.51	6.1692	0.20408	0.5109:0.0:0.4891:0.0	.	50	P41218	MNDA_HUMAN	Y	50	ENSP00000357123:D50Y	ENSP00000357123:D50Y	D	+	1	0	MNDA	157078715	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.547000	0.23299	-0.025000	0.13918	-0.259000	0.10710	GAT		0.338	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		15	404	1	0	7.93312e-07	1	8.26911e-07	15	404				
RINT1	60561	broad.mit.edu	37	7	105182892	105182892	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:105182892G>A	ENST00000257700.2	+	4	542	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	104					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAAAGAATTCGAAGTGCCTTA	0.328																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(310-312)cGa>cAa		RAD50 interactor 1							62.0	67.0	65.0					7																	105182892		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105182892G>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.311G>A	7.37:g.105182892G>A	ENSP00000257700:p.Arg104Gln					RINT1_ENST00000477285.1_3'UTR	p.R104Q	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			4	542	+			104					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.311G>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	2.986	-0.209338	0.06140	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	T	0.20463	2.07	4.63	3.47	0.39725	.	0.315890	0.35179	N	0.003399	T	0.04497	0.0123	N	0.00268	-1.735	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.39057	-0.9632	10	0.09843	T	0.71	-1.5379	10.271	0.43483	0.9205:0.0:0.0795:0.0	.	104	Q6NUQ1	RINT1_HUMAN	Q	104;73	ENSP00000257700:R104Q	ENSP00000257700:R104Q	R	+	2	0	RINT1	104970128	1.000000	0.71417	0.986000	0.45419	0.841000	0.47740	4.133000	0.57983	0.606000	0.29965	-0.959000	0.02639	CGA		0.328	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		40	384	0	0	0	1	0	40	384				
TSG101	7251	broad.mit.edu	37	11	18505562	18505562	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:18505562G>A	ENST00000251968.3	-	8	1113	c.698C>T	c.(697-699)gCg>gTg	p.A233V	TSG101_ENST00000357193.3_Missense_Mutation_p.A128V|TSG101_ENST00000536719.1_Missense_Mutation_p.A233V	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	233					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GTCACTGACCGCAGAGATGAG	0.512																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(697-699)gCg>gTg		tumor susceptibility 101							218.0	210.0	213.0					11																	18505562		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505562G>A	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.698C>T	11.37:g.18505562G>A	ENSP00000251968:p.Ala233Val					TSG101_ENST00000251968.3_Missense_Mutation_p.A233V|TSG101_ENST00000357193.3_Missense_Mutation_p.A128V	p.A233V			Q99816	TS101_HUMAN			8	832	-			233					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.698C>T	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284683	0.80803	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.22743	1.94;1.94;1.94	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.68952	2.095	0.80722	D	1	P	0.37731	0.607	B	0.25884	0.064	T	0.07102	-1.0790	10	0.66056	D	0.02	-8.1903	17.7611	0.88465	0.0:0.0:1.0:0.0	.	233	Q99816	TS101_HUMAN	V	233;233;128	ENSP00000438471:A233V;ENSP00000251968:A233V;ENSP00000349721:A128V	ENSP00000251968:A233V	A	-	2	0	TSG101	18462138	1.000000	0.71417	0.978000	0.43139	0.949000	0.60115	9.102000	0.94226	2.629000	0.89072	0.561000	0.74099	GCG		0.512	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		7	928	0	0	0	1	0	7	928				
ARHGEF7	8874	broad.mit.edu	37	13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCGTCTCACCGCATAAAGTCT	0.517																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(448-450)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 7							184.0	178.0	180.0					13																	111862267		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111862267G>A	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.449G>A	13.37:g.111862267G>A	ENSP00000364893:p.Arg150His					ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR	p.R150H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	699	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		150					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.449G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152947	0.57259	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.53206	0.64;0.63;0.67;0.85;0.65	5.39	5.39	0.77823	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.29908	0.895	0.80722	D	1	B;D;P;P	0.76494	0.016;0.999;0.597;0.719	B;D;B;B	0.65010	0.014;0.931;0.047;0.148	T	0.60717	-0.7208	10	0.66056	D	0.02	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	47;100;150;129	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	129;150;100;127;47;47	ENSP00000325994:R129H;ENSP00000364893:R150H;ENSP00000364891:R100H;ENSP00000389890:R47H;ENSP00000364889:R47H	ENSP00000325994:R129H	R	+	2	0	ARHGEF7	110660268	1.000000	0.71417	0.691000	0.30163	0.414000	0.31173	8.953000	0.93041	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		8	1136	0	0	0	1	0	8	1136				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			8	270	0	0	0	1	0	8	270				
NF1	4763	broad.mit.edu	37	17	29553568	29553568	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:29553568C>T	ENST00000358273.4	+	18	2500	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	NF1_ENST00000356175.3_Missense_Mutation_p.A706V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	706					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTCTGGTTGCCATGTCCTGT	0.527			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2116-2118)gCc>gTc		neurofibromin 1							98.0	94.0	95.0					17																	29553568		2203	4297	6500	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553568C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2117C>T	17.37:g.29553568C>T	ENSP00000351015:p.Ala706Val	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.A706V	p.A706V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	18	2500	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	706					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2117C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355934	0.95854	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.73363	-0.74;-0.74;2.78	5.69	5.69	0.88448	Armadillo-type fold (1);	0.053537	0.85682	D	0.000000	T	0.78162	0.4240	N	0.16790	0.44	0.80722	D	1	D;D;D	0.67145	0.969;0.996;0.973	P;D;P	0.73380	0.787;0.98;0.576	T	0.79303	-0.1859	10	0.45353	T	0.12	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	706;706;706	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	V	706;706;372	ENSP00000351015:A706V;ENSP00000348498:A706V;ENSP00000389907:A372V	ENSP00000348498:A706V	A	+	2	0	NF1	26577694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.625000	0.67770	2.679000	0.91253	0.650000	0.86243	GCC		0.527	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	580	0	0	0	1	0	7	580				
MED1	5469	broad.mit.edu	37	17	37571341	37571341	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:37571341G>A	ENST00000394287.3	-	16	1642	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	MED1_ENST00000300651.6_Silent_p.L479L			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.L479L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCCTTTGTAGAGTTTACAGC	0.408										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(1435-1437)ctC>ctT		mediator complex subunit 1							210.0	215.0	213.0					17																	37571341		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37571341G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1437C>T	17.37:g.37571341G>A		HNSCC(31;0.082)				MED1_ENST00000394287.3_Silent_p.L479L	p.L479L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	16	1660	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	479			Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000394287.3	37	c.1437C>T																																																																																					0.408	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		40	1230	0	0	0	1	0	40	1230				
PIP4K2B	8396	broad.mit.edu	37	17	36940505	36940505	+	Silent	SNP	C	C	T	rs143351168		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:36940505C>T	ENST00000269554.3	-	3	825	c.345G>A	c.(343-345)caG>caA	p.Q115Q	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	115	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CCTGGTAATCCTGATCATCAA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17308	0.001		0.0	False		,,,				2504	0.0					ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(343-345)caG>caA		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							92.0	76.0	82.0					17																	36940505		2203	4300	6503	SO:0001819	synonymous_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36940505C>T	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.345G>A	17.37:g.36940505C>T						PIP4K2B_ENST00000311500.6_5'UTR	p.Q115Q	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			3	825	-			115			PIPK.		Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	c.345G>A	CCDS11329.1																																																																																				0.502	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		5	245	0	0	0	1	0	5	245				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261731	39261731	+	Missense_Mutation	SNP	G	G	C	rs369890328	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:39261731G>C	ENST00000391415.1	+	1	148	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	31	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.E31Q(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CAGCTGCTGTGAGACCACCTG	0.637													G|||	8	0.00159744	0.0015	0.0	5008	,	,		17461	0.0		0.001	False		,,,				2504	0.0051					ENST00000391415.1																			1	Substitution - Missense(1)	p.E31Q(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(91-93)Gag>Cag		keratin associated protein 4-9							16.0	22.0	20.0					17																	39261731		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261731G>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.91G>C	17.37:g.39261731G>C	ENSP00000375234:p.Glu31Gln						p.E31Q	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	148	+			31			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.91G>C	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.121653	0.00346	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.26518	1.73	3.31	-2.91	0.05631	.	.	.	.	.	T	0.02727	0.0082	N	0.00020	-2.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45425	-0.9262	9	0.02654	T	1	.	7.3216	0.26531	0.2761:0.3069:0.4171:0.0	.	31	Q9BYQ8	KRA49_HUMAN	Q	31	ENSP00000375234:E31Q	ENSP00000334461:E31Q	E	+	1	0	KRTAP4-9	36515257	0.000000	0.05858	0.038000	0.18304	0.335000	0.28730	-1.734000	0.01848	-0.249000	0.09569	-1.188000	0.01700	GAG		0.637	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	258	0	0	0	1	0	5	258				
PKHD1L1	93035	broad.mit.edu	37	8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A	rs202180175		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATGACCGTTATGCTATT	0.368										HNSCC(38;0.096)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15914	0.0		0.001	False		,,,				2504	0.0					ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1237-1239)cGt>cAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		G	HIS/ARG	1,3703		0,1,1851	187.0	176.0	180.0		1238	3.6	1.0	8		180	12,8170		0,12,4079	yes	missense	PKHD1L1	NM_177531.4	29	0,13,5930	AA,AG,GG		0.1467,0.027,0.1094	probably-damaging	413/4244	110412530	13,11873	1852	4091	5943	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412530G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1238G>A	8.37:g.110412530G>A	ENSP00000367655:p.Arg413His	HNSCC(38;0.096)					p.R413H	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1342	+			413					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1238G>A	CCDS47911.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.68	3.871981	0.72180	2.7E-4	0.001467	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	5.42	3.63	0.41609	PA14 (1);	0.162251	0.41605	N	0.000845	T	0.72692	0.3492	L	0.39020	1.185	0.32838	D	0.504912	D	0.55385	0.971	P	0.50405	0.64	T	0.77381	-0.2609	10	0.62326	D	0.03	.	7.4721	0.27355	0.2644:0.0:0.7356:0.0	.	413	Q86WI1	PKHL1_HUMAN	H	413	ENSP00000367655:R413H	ENSP00000367655:R413H	R	+	2	0	PKHD1L1	110481706	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.601000	0.54059	0.661000	0.30985	-0.253000	0.11424	CGT		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	682	0	0	0	1	0	7	682				
BARX2	8538	broad.mit.edu	37	11	129321169	129321169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:129321169C>T	ENST00000281437.4	+	4	808	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	BARX2_ENST00000531946.1_Nonsense_Mutation_p.Q116*|BARX2_ENST00000526127.1_Nonsense_Mutation_p.Q93*	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	238					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGAGCCCTCTCAGGGGCAGGA	0.582																																						ENST00000281437.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(712-714)Cag>Tag		BARX homeobox 2							68.0	62.0	64.0					11																	129321169		2201	4297	6498	SO:0001587	stop_gained	8538							g.chr11:129321169C>T	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.712C>T	11.37:g.129321169C>T	ENSP00000281437:p.Gln238*					BARX2_ENST00000526127.1_Nonsense_Mutation_p.Q93*|BARX2_ENST00000531946.1_Nonsense_Mutation_p.Q116*	p.Q238*	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	4	808	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	238					O43518|Q6NT51	Nonsense_Mutation	SNP	ENST00000281437.4	37	c.712C>T	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	C	37	6.365625	0.97507	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	.	.	.	5.51	-0.263	0.12954	.	1.403330	0.03992	N	0.294986	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	7.0817	0.25235	0.1156:0.3683:0.445:0.0712	.	.	.	.	X	238;93;116	.	ENSP00000281437:Q238X	Q	+	1	0	BARX2	128826379	0.053000	0.20554	0.001000	0.08648	0.008000	0.06430	0.707000	0.25704	0.268000	0.21939	0.655000	0.94253	CAG		0.582	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		7	368	0	0	0	1	0	7	368				
IGHV3-43	28426	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:106926482T>C	ENST00000434710.1	-	0	139									immunoglobulin heavy variable 3-43																		CCAGCTGCACTTCACACTGGA	0.527																																						ENST00000434710.1																			0																				176.0	114.0	134.0					14																	106926482		2031	4150	6181			0							g.chr14:106926482T>C	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926482T>C														0	139	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.527	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		6	1022	0	0	0	1	0	6	1022				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	433	0	0	0	1	0	6	433				
CROCC	9696	broad.mit.edu	37	1	17271988	17271988	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:17271988C>T	ENST00000375541.5	+	15	2092	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAAGGGAAGCGCTCAGTCCT	0.642																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2023-2025)Cgc>Tgc		ciliary rootlet coiled-coil, rootletin																																				SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17271988C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2023C>T	1.37:g.17271988C>T	ENSP00000364691:p.Arg675Cys					CROCC_ENST00000467938.1_3'UTR	p.R675C	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2092	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	675						Missense_Mutation	SNP	ENST00000375541.5	37	c.2023C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885565	0.51908	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10382	2.88	5.01	4.02	0.46733	.	.	.	.	.	T	0.25717	0.0626	L	0.57536	1.79	0.48511	D	0.999665	D;D	0.89917	1.0;1.0	D;P	0.64410	0.925;0.878	T	0.00206	-1.1920	9	0.46703	T	0.11	.	13.6849	0.62511	0.1552:0.8448:0.0:0.0	.	538;675	A1L0S8;Q5TZA2	.;CROCC_HUMAN	C	675;556	ENSP00000364691:R675C	ENSP00000364691:R675C	R	+	1	0	CROCC	17144575	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.659000	0.37387	2.712000	0.92718	0.561000	0.74099	CGC		0.642	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		11	162	0	0	0	1	0	11	162				
WNT5B	81029	broad.mit.edu	37	12	1742027	1742027	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:1742027G>A	ENST00000397196.2	+	3	516	c.284G>A	c.(283-285)aGc>aAc	p.S95N	WNT5B_ENST00000537031.1_Missense_Mutation_p.S95N|WNT5B_ENST00000310594.3_Missense_Mutation_p.S95N|WNT5B_ENST00000542408.1_Missense_Mutation_p.S95N	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	95					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGGAATTGCAGCACAGCGGAC	0.562																																						ENST00000397196.2																			0				skin(1)	1						c.(283-285)aGc>aAc		wingless-type MMTV integration site family, member 5B							61.0	62.0	61.0					12																	1742027		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1742027G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.284G>A	12.37:g.1742027G>A	ENSP00000380379:p.Ser95Asn					WNT5B_ENST00000537031.1_Missense_Mutation_p.S95N|WNT5B_ENST00000542408.1_Missense_Mutation_p.S95N|WNT5B_ENST00000310594.3_Missense_Mutation_p.S95N	p.S95N	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		3	516	+	Ovarian(42;0.107)		95					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.284G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234610	0.95207	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.1	5.1	0.69264	.	0.034714	0.85682	D	0.000000	D	0.89192	0.6645	M	0.87269	2.87	0.80722	D	1	D	0.56287	0.975	D	0.65573	0.936	D	0.89137	0.3514	10	0.41790	T	0.15	.	18.9506	0.92640	0.0:0.0:1.0:0.0	.	95	Q9H1J7	WNT5B_HUMAN	N	95	ENSP00000438414:S95N;ENSP00000445395:S95N;ENSP00000439312:S95N;ENSP00000308887:S95N;ENSP00000380379:S95N;ENSP00000442348:S95N;ENSP00000440600:S95N	ENSP00000308887:S95N	S	+	2	0	WNT5B	1612288	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.873000	0.87193	2.545000	0.85829	0.650000	0.86243	AGC		0.562	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			6	502	0	0	0	1	0	6	502				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	4	137	0	0	0	1	0	4	137				
ZNF217	7764	broad.mit.edu	37	20	52192921	52192921	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:52192921C>T	ENST00000371471.2	-	4	2807	c.2382G>A	c.(2380-2382)caG>caA	p.Q794Q	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.Q794Q			O75362	ZN217_HUMAN	zinc finger protein 217	794					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGGAGGGCTCTGCTTCCCCT	0.562																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2380-2382)caG>caA		zinc finger protein 217							46.0	46.0	46.0					20																	52192921		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52192921C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2382G>A	20.37:g.52192921C>T						ZNF217_ENST00000302342.3_Silent_p.Q794Q	p.Q794Q			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	2807	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		794					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.2382G>A	CCDS13443.1																																																																																				0.562	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		140	319	0	0	0	1	0	140	319				
CTAGE1	64693	broad.mit.edu	37	18	19996570	19996570	+	5'Flank	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:19996570C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.R402Q			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGCTCGCTTTCGGTAGGTCTC	0.358																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1204-1206)cGa>cAa		cutaneous T-cell lymphoma-associated antigen 1							82.0	94.0	90.0					18																	19996570		2175	4287	6462	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996570C>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996570C>T	Exception_encountered						p.R402Q	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	1308	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		402					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1205G>A		.	.	.	.	.	.	.	.	.	.	C	13.15	2.149825	0.37923	.	.	ENSG00000212710	ENST00000391403	T	0.45276	0.9	1.09	0.0992	0.14501	.	.	.	.	.	T	0.59662	0.2210	M	0.83953	2.67	0.09310	N	0.999992	D	0.89917	1.0	D	0.71656	0.974	T	0.47169	-0.9138	8	.	.	.	.	5.0423	0.14465	0.0:0.6186:0.3814:0.0	.	402	Q96RT6	CTGE2_HUMAN	Q	402	ENSP00000375220:R402Q	.	R	-	2	0	CTAGE1	18250568	0.435000	0.25577	0.141000	0.22245	0.004000	0.04260	0.814000	0.27239	0.014000	0.14944	-0.482000	0.04802	CGA		0.358	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		38	684	0	0	0	1	0	38	684				
CRYBB1	1414	broad.mit.edu	37	22	26997912	26997912	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:26997912T>C	ENST00000215939.2	-	5	636	c.506A>G	c.(505-507)gAc>gGc	p.D169G		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	169	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGGTGCGTCGTCCCCCTGGAT	0.612																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(505-507)gAc>gGc		crystallin, beta B1							103.0	76.0	86.0					22																	26997912		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:26997912T>C		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.506A>G	22.37:g.26997912T>C	ENSP00000215939:p.Asp169Gly						p.D169G	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			5	636	-			169			Beta/gamma crystallin 'Greek key' 3.			Missense_Mutation	SNP	ENST00000215939.2	37	c.506A>G	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103691	0.56291	.	.	ENSG00000100122	ENST00000215939	T	0.76448	-1.02	4.8	4.8	0.61643	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.049341	0.85682	D	0.000000	D	0.90535	0.7034	H	0.94698	3.57	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	D	0.92982	0.6407	10	0.87932	D	0	.	13.6717	0.62430	0.0:0.0:0.0:1.0	.	169	P53674	CRBB1_HUMAN	G	169	ENSP00000215939:D169G	ENSP00000215939:D169G	D	-	2	0	CRYBB1	25327912	1.000000	0.71417	0.899000	0.35326	0.043000	0.13939	5.534000	0.67167	1.997000	0.58415	0.482000	0.46254	GAC		0.612	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		5	339	0	0	0	1	0	5	339				
ATP13A5	344905	broad.mit.edu	37	3	193042744	193042744	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:193042744G>A	ENST00000342358.4	-	14	1700	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	528						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCCATGGCCGCACACAGTGG	0.532																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1582-1584)gCg>gTg		ATPase type 13A5							81.0	87.0	85.0					3																	193042744		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193042744G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1583C>T	3.37:g.193042744G>A	ENSP00000341942:p.Ala528Val						p.A528V	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	14	1700	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		528					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1583C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849609	0.71603	.	.	ENSG00000187527	ENST00000342358	T	0.69926	-0.44	5.67	3.84	0.44239	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.087753	0.49305	D	0.000147	T	0.59459	0.2195	L	0.47078	1.49	0.37991	D	0.933923	P	0.34757	0.467	B	0.41764	0.366	T	0.56475	-0.7973	10	0.17832	T	0.49	-5.8685	8.0312	0.30465	0.0947:0.3125:0.5928:0.0	.	528	Q4VNC0	AT135_HUMAN	V	528	ENSP00000341942:A528V	ENSP00000341942:A528V	A	-	2	0	ATP13A5	194525438	0.813000	0.29090	0.880000	0.34516	0.751000	0.42716	1.376000	0.34306	1.389000	0.46526	0.655000	0.94253	GCG		0.532	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		8	728	0	0	0	1	0	8	728				
H2AFY2	55506	broad.mit.edu	37	10	71859992	71859992	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:71859992A>C	ENST00000373255.4	+	7	981	c.717A>C	c.(715-717)aaA>aaC	p.K239N	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	239	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CTGGGGGAAAAGAGTTCTTGG	0.478																																						ENST00000373255.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(715-717)aaA>aaC		H2A histone family, member Y2							51.0	49.0	50.0					10																	71859992		2203	4300	6503	SO:0001583	missense	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71859992A>C	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.717A>C	10.37:g.71859992A>C	ENSP00000362352:p.Lys239Asn					AIFM2_ENST00000373248.1_Intron	p.K239N	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN			7	981	+			239			Macro.		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	c.717A>C	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124489	0.77436	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.24908	1.83;1.83	5.8	-2.77	0.05877	Appr-1-p processing (2);	0.099386	0.64402	D	0.000002	T	0.32164	0.0820	M	0.73372	2.23	0.80722	D	1	P	0.45348	0.856	P	0.48166	0.569	T	0.36407	-0.9749	10	0.87932	D	0	.	11.8874	0.52610	0.612:0.0:0.388:0.0	.	239	Q9P0M6	H2AW_HUMAN	N	239;173;173	ENSP00000362352:K239N;ENSP00000404584:K173N	ENSP00000362352:K239N	K	+	3	2	H2AFY2	71529998	0.598000	0.26882	0.903000	0.35520	0.992000	0.81027	-0.087000	0.11215	-0.424000	0.07382	0.533000	0.62120	AAA		0.478	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		43	109	0	0	0	1	0	43	109				
PSG7	5676	broad.mit.edu	37	19	43430840	43430840	+	RNA	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:43430840G>C	ENST00000406070.2	-	0	834				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTAAGTTATTGATGGTGATGT	0.463																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							284.0	277.0	279.0					19																	43430840		2201	4298	6499			5676				female pregnancy	extracellular region		g.chr19:43430840G>C			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430840G>C						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	827	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.463	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		51	1434	0	0	0	1	0	51	1434				
GLCE	26035	broad.mit.edu	37	15	69560981	69560981	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:69560981G>A	ENST00000261858.2	+	5	1480	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	GLCE_ENST00000559420.2_Missense_Mutation_p.E354K|GLCE_ENST00000559500.1_3'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	418					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GAACCAGGATGAGAAAGGTGG	0.493																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1252-1254)Gag>Aag		glucuronic acid epimerase							78.0	71.0	74.0					15																	69560981		2200	4298	6498	SO:0001583	missense	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69560981G>A	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1252G>A	15.37:g.69560981G>A	ENSP00000261858:p.Glu418Lys					GLCE_ENST00000559420.2_Missense_Mutation_p.E354K|GLCE_ENST00000559500.1_3'UTR	p.E418K	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			5	1480	+			418					Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	c.1252G>A	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841867	0.32513	.	.	ENSG00000138604	ENST00000261858	T	0.41065	1.01	5.27	5.27	0.74061	.	0.220087	0.47852	D	0.000208	T	0.25606	0.0623	N	0.19112	0.55	0.46356	D	0.999008	B	0.18461	0.028	B	0.18871	0.023	T	0.09422	-1.0675	10	0.11794	T	0.64	-4.9075	11.0182	0.47703	0.0863:0.0:0.9137:0.0	.	418	O94923	GLCE_HUMAN	K	418	ENSP00000261858:E418K	ENSP00000261858:E418K	E	+	1	0	GLCE	67348035	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.921000	0.87530	2.470000	0.83445	0.557000	0.71058	GAG		0.493	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		5	406	0	0	0	1	0	5	406				
FLT3LG	2323	broad.mit.edu	37	19	49983561	49983561	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:49983561C>G	ENST00000594009.1	+	6	567	c.488C>G	c.(487-489)tCa>tGa	p.S163*	FLT3LG_ENST00000204637.2_Nonsense_Mutation_p.S81*|FLT3LG_ENST00000600429.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000597551.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000595510.1_Nonsense_Mutation_p.S81*|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000596435.1_Nonsense_Mutation_p.S145*|CTD-3148I10.9_ENST00000599536.1_Intron	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	163					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCAGACTCCTCAACCCTGCCA	0.667																																						ENST00000595510.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(241-243)tCa>tGa		fms-related tyrosine kinase 3 ligand							48.0	45.0	46.0					19																	49983561		2163	4189	6352	SO:0001587	stop_gained	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49983561C>G	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.488C>G	19.37:g.49983561C>G	ENSP00000469613:p.Ser163*					FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_Nonsense_Mutation_p.S81*|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Nonsense_Mutation_p.S145*|FLT3LG_ENST00000600429.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000594009.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000597551.1_Nonsense_Mutation_p.S163*	p.S81*			P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	6	543	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	163					A0AVC2|B9EGH2|Q05C96	Nonsense_Mutation	SNP	ENST00000594009.1	37	c.242C>G	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446390	0.84101	.	.	ENSG00000090554	ENST00000204637	.	.	.	3.68	3.68	0.42216	.	0.299782	0.30901	N	0.008656	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.2738	11.0942	0.48134	0.0:1.0:0.0:0.0	.	.	.	.	X	163	.	ENSP00000204637:S163X	S	+	2	0	FLT3LG	54675373	0.062000	0.20869	0.847000	0.33407	0.441000	0.31987	3.315000	0.51951	2.042000	0.60477	0.561000	0.74099	TCA		0.667	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			6	189	0	0	0	1	0	6	189				
ADCY5	111	broad.mit.edu	37	3	123021988	123021988	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:123021988G>A	ENST00000462833.1	-	14	3850	c.2638C>T	c.(2638-2640)Cac>Tac	p.H880Y	ADCY5_ENST00000309879.5_Missense_Mutation_p.H530Y|ADCY5_ENST00000491190.1_Missense_Mutation_p.H513Y	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	880					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCCGCCACGTGACACGCGTTG	0.642																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2638-2640)Cac>Tac		adenylate cyclase 5							57.0	51.0	53.0					3																	123021988		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123021988G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2638C>T	3.37:g.123021988G>A	ENSP00000419361:p.His880Tyr					ADCY5_ENST00000491190.1_Missense_Mutation_p.H513Y|ADCY5_ENST00000309879.5_Missense_Mutation_p.H530Y	p.H880Y	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	14	3850	-			880					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2638C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819575	0.32145	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.04	5.04	0.67666	.	0.066645	0.64402	D	0.000016	T	0.44074	0.1276	M	0.61703	1.905	0.48135	D	0.999599	B;B	0.14438	0.01;0.001	B;B	0.10450	0.005;0.001	T	0.47045	-0.9147	10	0.02654	T	1	.	18.5817	0.91174	0.0:0.0:1.0:0.0	.	880;513	O95622;B3KWA8	ADCY5_HUMAN;.	Y	880;513;530;439	ENSP00000419361:H880Y;ENSP00000418537:H513Y;ENSP00000308685:H530Y;ENSP00000420082:H439Y	ENSP00000308685:H530Y	H	-	1	0	ADCY5	124504678	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	7.719000	0.84751	2.619000	0.88677	0.561000	0.74099	CAC		0.642	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		6	276	0	0	0	1	0	6	276				
PIEZO2	63895	broad.mit.edu	37	18	10691258	10691258	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:10691258C>G	ENST00000503781.3	-	44	6974	c.6975G>C	c.(6973-6975)aaG>aaC	p.K2325N	PIEZO2_ENST00000580640.1_Missense_Mutation_p.K2350N|PIEZO2_ENST00000302079.6_Missense_Mutation_p.K2325N|PIEZO2_ENST00000538948.1_Missense_Mutation_p.K282N|PIEZO2_ENST00000285141.4_Missense_Mutation_p.K180N	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2325					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AATTGTAGCTCTTGGTGAGGA	0.488																																						ENST00000302079.6																			0											c.(6973-6975)aaG>aaC		piezo-type mechanosensitive ion channel component 2							130.0	114.0	119.0					18																	10691258		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10691258C>G	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6975G>C	18.37:g.10691258C>G	ENSP00000421377:p.Lys2325Asn					PIEZO2_ENST00000580640.1_Missense_Mutation_p.K2350N|PIEZO2_ENST00000285141.4_Missense_Mutation_p.K180N|PIEZO2_ENST00000503781.3_Missense_Mutation_p.K2325N|PIEZO2_ENST00000538948.1_Missense_Mutation_p.K282N	p.K2325N			Q9H5I5	PIEZ2_HUMAN			44	6974	-			2325					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.6975G>C		.	.	.	.	.	.	.	.	.	.	C	18.70	3.679837	0.68042	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.75938	-0.98;-0.94;-0.82	5.62	3.47	0.39725	.	0.142737	0.47455	D	0.000228	T	0.78477	0.4289	L	0.60455	1.87	0.47737	D	0.999505	D	0.76494	0.999	D	0.71656	0.974	T	0.75986	-0.3124	10	0.36615	T	0.2	.	4.6022	0.12359	0.0:0.5856:0.0:0.4143	.	282	D6RFZ0	.	N	282;2325;282;180	ENSP00000303316:K2325N;ENSP00000443129:K282N;ENSP00000285141:K180N	ENSP00000285141:K180N	K	-	3	2	FAM38B	10681258	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.258000	0.51507	1.525000	0.49052	-0.122000	0.15005	AAG		0.488	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		167	407	0	0	0	1	0	167	407				
USP32	84669	broad.mit.edu	37	17	58292025	58292025	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:58292025G>A	ENST00000300896.4	-	17	2172	c.1978C>T	c.(1978-1980)Cgc>Tgc	p.R660C	USP32_ENST00000592339.1_Missense_Mutation_p.R330C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	660					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTTTAATGCGCAGCCTTTGA	0.408																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(1978-1980)Cgc>Tgc		ubiquitin specific peptidase 32							40.0	37.0	38.0					17																	58292025		2201	4295	6496	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58292025G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1978C>T	17.37:g.58292025G>A	ENSP00000300896:p.Arg660Cys					USP32_ENST00000592339.1_Missense_Mutation_p.R330C	p.R660C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		17	2172	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		660					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.1978C>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241717	0.95272	.	.	ENSG00000170832	ENST00000300896	T	0.51574	0.7	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.68800	-0.5313	10	0.72032	D	0.01	.	19.155	0.93506	0.0:0.0:1.0:0.0	.	660	Q8NFA0	UBP32_HUMAN	C	660	ENSP00000300896:R660C	ENSP00000300896:R660C	R	-	1	0	USP32	55646807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.450000	0.66626	2.539000	0.85634	0.650000	0.86243	CGC		0.408	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		5	445	0	0	0	1	0	5	445				
AGBL2	79841	broad.mit.edu	37	11	47721004	47721004	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:47721004C>A	ENST00000525123.1	-	8	973	c.688G>T	c.(688-690)Gat>Tat	p.D230Y	AGBL2_ENST00000357610.3_Missense_Mutation_p.D230Y|AGBL2_ENST00000528244.1_Missense_Mutation_p.D192Y|AGBL2_ENST00000298861.4_Missense_Mutation_p.D230Y|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	230						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATACCTGAATCTAATTGATAG	0.323																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(688-690)Gat>Tat		ATP/GTP binding protein-like 2							180.0	168.0	172.0					11																	47721004		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47721004C>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.688G>T	11.37:g.47721004C>A	ENSP00000435582:p.Asp230Tyr					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.D192Y|AGBL2_ENST00000298861.4_Missense_Mutation_p.D230Y|AGBL2_ENST00000357610.3_Missense_Mutation_p.D230Y	p.D230Y	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			8	973	-			230					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.688G>T	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240985	0.39598	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.22	4.28	0.50868	.	0.515698	0.23114	N	0.051766	T	0.27419	0.0673	L	0.59436	1.845	0.32047	N	0.597485	B;B;B	0.28208	0.203;0.129;0.129	B;B;B	0.28784	0.094;0.043;0.043	T	0.38887	-0.9640	10	0.72032	D	0.01	-14.9865	4.6077	0.12385	0.0:0.606:0.1987:0.1952	.	192;192;230	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	Y	230;230;230;192;174;174	ENSP00000435582:D230Y;ENSP00000350228:D230Y;ENSP00000298861:D230Y;ENSP00000436630:D192Y;ENSP00000436063:D174Y	ENSP00000298861:D230Y	D	-	1	0	AGBL2	47677580	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	0.984000	0.29565	1.168000	0.42723	0.393000	0.25936	GAT		0.323	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		9	248	1	0	3.09899e-07	1	3.2532e-07	9	248				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			15	257	0	0	0	1	0	15	257				
EIF2AK2	5610	broad.mit.edu	37	2	37365423	37365423	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:37365423G>A	ENST00000233057.4	-	8	999	c.677C>T	c.(676-678)tCg>tTg	p.S226L	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S226L|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S226L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	226					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CATAAGCAACGAAGAACTGTT	0.358																																						ENST00000233057.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(676-678)tCg>tTg		eukaryotic translation initiation factor 2-alpha kinase 2							121.0	122.0	122.0					2																	37365423		2203	4300	6503	SO:0001583	missense	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37365423G>A	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.677C>T	2.37:g.37365423G>A	ENSP00000233057:p.Ser226Leu					EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S226L|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S226L	p.S226L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			8	999	-		all_hematologic(82;0.248)	226					A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.677C>T	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	G	9.576	1.122371	0.20877	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.76448	-0.99;-0.99;-1.02	2.93	-0.132	0.13489	.	2.710630	0.01408	N	0.013874	T	0.75102	0.3804	M	0.71581	2.175	0.09310	N	1	B;B;B;B	0.14805	0.011;0.011;0.003;0.003	B;B;B;B	0.09377	0.004;0.002;0.002;0.002	T	0.45101	-0.9284	10	0.26408	T	0.33	0.431	6.4738	0.22024	0.3144:0.0:0.6856:0.0	.	226;226;226;226	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	L	226	ENSP00000233057:S226L;ENSP00000378559:S226L;ENSP00000385014:S226L	ENSP00000233057:S226L	S	-	2	0	EIF2AK2	37218927	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.674000	0.05233	-0.052000	0.13311	0.557000	0.71058	TCG		0.358	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		24	298	0	0	0	1	0	24	298				
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			8	Substitution - Missense(8)	p.V40G(8)	lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(118-120)gTg>gGg		DEAH (Asp-Glu-Ala-His) box helicase 9							54.0	51.0	52.0					1																	182812436		1803	4059	5862	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812436T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly						p.V40G	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			3	229	+			40			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.119T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		13	181	0	0	0	1	0	13	181				
IFIH1	64135	broad.mit.edu	37	2	163144827	163144827	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:163144827C>T	ENST00000263642.2	-	5	1308	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	305					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AGCTGGAGTTCTGGCTCCGGG	0.478																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(913-915)Gaa>Aaa		interferon induced with helicase C domain 1							71.0	68.0	69.0					2																	163144827		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163144827C>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.913G>A	2.37:g.163144827C>T	ENSP00000263642:p.Glu305Lys						p.E305K	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			5	1308	-			305					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.913G>A	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663722	0.67700	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.53640	0.61	6.03	5.16	0.70880	DEAD-like helicase (1);	0.117044	0.56097	D	0.000030	T	0.45955	0.1368	L	0.38838	1.175	0.43054	D	0.994663	P	0.48162	0.906	P	0.48738	0.588	T	0.49293	-0.8955	10	0.72032	D	0.01	-17.0742	10.9061	0.47081	0.0:0.8028:0.1295:0.0677	.	305	Q9BYX4	IFIH1_HUMAN	K	305	ENSP00000263642:E305K	ENSP00000263642:E305K	E	-	1	0	IFIH1	162853073	1.000000	0.71417	0.971000	0.41717	0.967000	0.64934	3.203000	0.51075	1.562000	0.49601	0.557000	0.71058	GAA		0.478	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		92	246	0	0	0	1	0	92	246				
HDAC8	55869	broad.mit.edu	37	X	71788701	71788701	+	Silent	SNP	C	C	T	rs373199509		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:71788701C>T	ENST00000373573.3	-	3	539	c.198G>A	c.(196-198)gaG>gaA	p.E66E	HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373561.4_Silent_p.E66E|HDAC8_ENST00000373556.3_Silent_p.E66E|HDAC8_ENST00000373571.1_Silent_p.E66E|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373554.1_Silent_p.E66E|HDAC8_ENST00000373560.2_Silent_p.E66E|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000439122.2_Silent_p.E66E	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	66	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	AGGTGGCCATCTCCTCCATGG	0.483																																						ENST00000439122.2																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(196-198)gaG>gaA		histone deacetylase 8	Vorinostat(DB02546)						96.0	73.0	81.0					X																	71788701		2203	4300	6503	SO:0001819	synonymous_variant	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71788701C>T	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.198G>A	X.37:g.71788701C>T						HDAC8_ENST00000373554.1_Silent_p.E66E|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373556.3_Silent_p.E66E|HDAC8_ENST00000373561.4_Silent_p.E66E|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373571.1_Silent_p.E66E|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373560.2_Silent_p.E66E|HDAC8_ENST00000373573.3_Silent_p.E66E	p.E66E	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN			3	484	-	Renal(35;0.156)		66			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Silent	SNP	ENST00000373573.3	37	c.198G>A	CCDS14420.1																																																																																				0.483	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		5	145	0	0	0	1	0	5	145				
CLUL1	27098	broad.mit.edu	37	18	641458	641458	+	Nonsense_Mutation	SNP	G	G	T	rs547348693		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:641458G>T	ENST00000400606.2	+	7	1271	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	CLUL1_ENST00000579494.1_Nonsense_Mutation_p.E376*|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000338387.7_Nonsense_Mutation_p.E376*|CLUL1_ENST00000540035.1_Nonsense_Mutation_p.E428*|CLUL1_ENST00000581619.1_Nonsense_Mutation_p.E401*	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	376					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CTATCTGGTGGAGAAGATGAG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18478	0.001		0.0	False		,,,				2504	0.0					ENST00000581619.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						c.(1201-1203)Gag>Tag		clusterin-like 1 (retinal)							117.0	113.0	115.0					18																	641458		1945	4140	6085	SO:0001587	stop_gained	27098				cell death	extracellular region		g.chr18:641458G>T	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1126G>T	18.37:g.641458G>T	ENSP00000383449:p.Glu376*					CLUL1_ENST00000400606.2_Nonsense_Mutation_p.E376*|CLUL1_ENST00000540035.1_Nonsense_Mutation_p.E428*|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000579494.1_Nonsense_Mutation_p.E376*|CLUL1_ENST00000338387.7_Nonsense_Mutation_p.E376*	p.E401*			Q15846	CLUL1_HUMAN			7	2048	+			376					A0FDN7	Nonsense_Mutation	SNP	ENST00000400606.2	37	c.1201G>T	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116170	0.77323	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	.	.	.	5.59	2.63	0.31362	.	0.469100	0.24352	N	0.039263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-1.5628	3.4341	0.07440	0.1012:0.307:0.4344:0.1574	.	.	.	.	X	376;428;376	.	ENSP00000341128:E376X	E	+	1	0	CLUL1	631458	0.995000	0.38212	0.832000	0.32986	0.062000	0.15995	0.684000	0.25364	0.676000	0.31285	0.563000	0.77884	GAG		0.493	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			9	503	1	0	0.000673444	1	0.00068269	9	503				
IGLL5	100423062	broad.mit.edu	37	22	23237736	23237736	+	Silent	SNP	G	G	A	rs370560112		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23237736G>A	ENST00000526893.1	+	3	781	c.507G>A	c.(505-507)caG>caA	p.Q169Q	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000532223.2_Silent_p.Q170Q|IGLJ1_ENST00000390320.2_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	169	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCTCCAAACAGAGCAACAACA	0.602																																						ENST00000532223.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						c.(508-510)caG>caA		immunoglobulin lambda-like polypeptide 5							90.0	90.0	90.0					22																	23237736		2202	4295	6497	SO:0001819	synonymous_variant	100423062					extracellular region		g.chr22:23237736G>A	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"""Immunoglobulin superfamily / C1-set domain containing"""	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.507G>A	22.37:g.23237736G>A						IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Silent_p.Q169Q	p.Q170Q			B9A064	IGLL5_HUMAN			3	784	+			169			C region (By similarity to lambda light- chain).|Ig-like C1-type.			Silent	SNP	ENST00000526893.1	37	c.510G>A	CCDS54506.1																																																																																				0.602	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		11	409	0	0	0	1	0	11	409				
ZFP28	140612	broad.mit.edu	37	19	57051065	57051065	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:57051065G>A	ENST00000301318.3	+	2	351	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	AC005498.3_ENST00000593218.1_lincRNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.E94K|ZFP28_ENST00000594386.1_3'UTR	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GACAGGAATTGAACCTAAAGC	0.468																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(280-282)Gaa>Aaa		ZFP28 zinc finger protein							107.0	105.0	106.0					19																	57051065		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57051065G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.280G>A	19.37:g.57051065G>A	ENSP00000301318:p.Glu94Lys					ZFP28_ENST00000591844.1_Missense_Mutation_p.E94K|ZFP28_ENST00000594386.1_3'UTR	p.E94K	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	2	351	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	94					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.280G>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.927546	0.00493	.	.	ENSG00000196867	ENST00000301318	T	0.04862	3.54	3.15	-2.26	0.06867	.	1.302900	0.05857	N	0.622289	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.42378	-0.9455	10	0.06236	T	0.91	.	3.6521	0.08208	0.4893:0.2061:0.3046:0.0	.	94;94	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	K	94	ENSP00000301318:E94K	ENSP00000301318:E94K	E	+	1	0	ZFP28	61742877	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.068000	0.11561	-0.378000	0.07918	0.462000	0.41574	GAA		0.468	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		10	266	0	0	0	1	0	10	266				
STAC3	246329	broad.mit.edu	37	12	57642585	57642585	+	Splice_Site	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:57642585G>A	ENST00000332782.2	-	4	537	c.336C>T	c.(334-336)ctC>ctT	p.L112L	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Splice_Site_p.L73L	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	112					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACTTGTTGTTGACTTGGGAAA	0.463																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.e4-1		SH3 and cysteine rich domain 3							266.0	238.0	247.0					12																	57642585		2203	4300	6503	SO:0001630	splice_region_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642585G>A	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.335-1C>T	12.37:g.57642585G>A						STAC3_ENST00000554578.1_Splice_Site_p.L73_splice|STAC3_ENST00000546246.2_Intron	p.L112_splice	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			4	537	-			112					B4DUK9|Q96HU5	Splice_Site	SNP	ENST00000332782.2	37	c.334_splice	CCDS8936.1																																																																																				0.463	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064	Silent	440	455	0	0	0	1	0	440	455				
FFAR2	2867	broad.mit.edu	37	19	35941517	35941517	+	Missense_Mutation	SNP	C	C	T	rs574975926		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:35941517C>T	ENST00000599180.2	+	2	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R301C			O15552	FFAR2_HUMAN	free fatty acid receptor 2	301					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGGGACGCAGAGGCAA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19039	0.0		0.0	False		,,,				2504	0.001				GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(901-903)Cgc>Tgc		free fatty acid receptor 2							76.0	76.0	76.0					19																	35941517		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941517C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.901C>T	19.37:g.35941517C>T	ENSP00000473159:p.Arg301Cys					FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R301C	p.R301C			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	981	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		301					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.901C>T	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037193	0.35893	.	.	ENSG00000126262	ENST00000246549	T	0.69040	-0.37	4.85	-0.293	0.12835	.	0.444083	0.19863	N	0.104381	T	0.52041	0.1710	L	0.51422	1.61	0.09310	N	0.999996	B	0.10296	0.003	B	0.04013	0.001	T	0.41805	-0.9488	10	0.48119	T	0.1	-3.8436	3.8897	0.09113	0.1696:0.4716:0.0:0.3588	.	301	O15552	FFAR2_HUMAN	C	301	ENSP00000246549:R301C	ENSP00000246549:R301C	R	+	1	0	FFAR2	40633357	0.000000	0.05858	0.002000	0.10522	0.282000	0.26991	0.054000	0.14205	-0.091000	0.12440	0.563000	0.77884	CGC		0.567	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		219	469	0	0	0	1	0	219	469				
DGUOK	1716	broad.mit.edu	37	2	74154141	74154141	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:74154141G>A	ENST00000264093.4	+	1	189	c.104G>A	c.(103-105)gGg>gAg	p.G35E	DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Missense_Mutation_p.G35E|DGUOK_ENST00000348222.1_Missense_Mutation_p.G35E	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	35					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	CTGCACGCGGGGCGCGGGCCC	0.672																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(103-105)gGg>gAg		deoxyguanosine kinase							35.0	38.0	37.0					2																	74154141		2203	4299	6502	SO:0001583	missense	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74154141G>A	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.104G>A	2.37:g.74154141G>A	ENSP00000264093:p.Gly35Glu					DGUOK_ENST00000348222.1_Missense_Mutation_p.G35E|DGUOK_ENST00000356837.6_Missense_Mutation_p.G35E|DGUOK_ENST00000462685.1_3'UTR	p.G35E	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN			1	189	+			35					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	ENST00000264093.4	37	c.104G>A	CCDS1931.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016699	0.54468	.	.	ENSG00000114956	ENST00000264093;ENST00000348222;ENST00000356837;ENST00000347161	D;D;D	0.99832	-5.27;-4.72;-7.02	4.19	1.14	0.20703	.	0.757041	0.13116	N	0.412588	D	0.98438	0.9480	L	0.38838	1.175	0.24671	N	0.99342	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	D	0.99942	1.1420	10	0.07175	T	0.84	-3.3064	5.3436	0.15996	0.4514:0.0:0.5486:0.0	.	35;35	E5KSL6;Q16854	.;DGUOK_HUMAN	E	35	ENSP00000264093:G35E;ENSP00000306964:G35E;ENSP00000349294:G35E	ENSP00000264093:G35E	G	+	2	0	DGUOK	74007649	0.784000	0.28713	0.720000	0.30636	0.681000	0.39784	0.699000	0.25586	0.222000	0.20900	0.655000	0.94253	GGG		0.672	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			6	447	0	0	0	1	0	6	447				
RHCE	6006	broad.mit.edu	37	1	25717263	25717263	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:25717263G>A	ENST00000294413.7	-	5	836	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	RHCE_ENST00000425135.1_Missense_Mutation_p.H260Y|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.H260Y|RHCE_ENST00000374352.2_Missense_Mutation_p.H244Y|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Missense_Mutation_p.H260Y|RHCE_ENST00000349320.3_Missense_Mutation_p.H244Y|RHCE_ENST00000413854.1_Missense_Mutation_p.H260Y|RHCE_ENST00000340849.4_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	260						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGGGGGTGAGCCAAGGAT	0.537																																						ENST00000349320.3																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(730-732)Cac>Tac		Rh blood group, CcEe antigens							157.0	134.0	142.0					1																	25717263		2203	4300	6503	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25717263G>A	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.778C>T	1.37:g.25717263G>A	ENSP00000294413:p.His260Tyr					RHCE_ENST00000340849.4_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.H260Y|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Missense_Mutation_p.H260Y|RHCE_ENST00000243186.6_Missense_Mutation_p.H260Y|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Missense_Mutation_p.H260Y|RHCE_ENST00000294413.7_Missense_Mutation_p.H260Y|RHCE_ENST00000374352.2_Missense_Mutation_p.H244Y	p.H244Y			P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	7	1118	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	260					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.730C>T	CCDS30635.1	.	.	.	.	.	.	.	.	.	.	g	10.01	1.233543	0.22626	.	.	ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	4.23	3.3	0.37823	Ammonium transporter AmtB-like (3);	0.534254	0.19648	N	0.109285	T	0.50222	0.1603	M	0.83953	2.67	0.19300	N	0.999972	D;D;D	0.69078	0.988;0.997;0.964	D;D;D	0.77004	0.916;0.943;0.989	T	0.37709	-0.9694	10	0.87932	D	0	-2.9623	9.4703	0.38837	0.0:0.0:0.7883:0.2117	.	244;260;260	Q5VSJ9;Q5VSJ8;P18577	.;.;RHCE_HUMAN	Y	260;202;244;260;260;244;260;260;260	ENSP00000415417:H260Y;ENSP00000363472:H244Y;ENSP00000243186:H260Y;ENSP00000392809:H260Y;ENSP00000311185:H244Y;ENSP00000294413:H260Y;ENSP00000334570:H260Y	ENSP00000243186:H260Y	H	-	1	0	RHCE	25589850	0.912000	0.30974	0.077000	0.20336	0.051000	0.14879	2.349000	0.44054	1.106000	0.41623	0.591000	0.81541	CAC		0.537	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		58	563	0	0	0	1	0	58	563				
MCM3AP	8888	broad.mit.edu	37	21	47686068	47686068	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:47686068C>T	ENST00000397708.1	-	12	3056	c.2802G>A	c.(2800-2802)ctG>ctA	p.L934L	MCM3AP_ENST00000291688.1_Silent_p.L934L			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	934	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAGACCGGTTCAGCTCCACAC	0.567																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2800-2802)ctG>ctA		minichromosome maintenance complex component 3 associated protein							151.0	163.0	159.0					21																	47686068		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47686068C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2802G>A	21.37:g.47686068C>T						MCM3AP_ENST00000291688.1_Silent_p.L934L	p.L934L			O60318	MCM3A_HUMAN			12	3056	-	Breast(49;0.112)		934					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.2802G>A	CCDS13734.1																																																																																				0.567	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		36	1140	0	0	0	1	0	36	1140				
XPR1	9213	broad.mit.edu	37	1	180793903	180793903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:180793903G>T	ENST00000367590.4	+	8	976	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	XPR1_ENST00000367589.3_Nonsense_Mutation_p.E260*	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	260					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATTTAAACTTGAAACAGATAG	0.328																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(778-780)Gaa>Taa		xenotropic and polytropic retrovirus receptor 1							81.0	87.0	85.0					1																	180793903		2201	4298	6499	SO:0001587	stop_gained	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180793903G>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.778G>T	1.37:g.180793903G>T	ENSP00000356562:p.Glu260*					XPR1_ENST00000367589.3_Nonsense_Mutation_p.E260*	p.E260*	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			8	976	+			260					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Nonsense_Mutation	SNP	ENST00000367590.4	37	c.778G>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511924	0.96402	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	.	.	.	5.3	4.33	0.51752	.	0.675652	0.14013	N	0.347315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-5.9541	4.9217	0.13872	0.0811:0.1489:0.6162:0.1538	.	.	.	.	X	260	.	ENSP00000356561:E260X	E	+	1	0	XPR1	179060526	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.435000	0.44811	2.489000	0.83994	0.650000	0.86243	GAA		0.328	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		94	292	1	0	3.26951e-42	1	3.58513e-42	94	292				
PRKAR1B	5575	broad.mit.edu	37	7	720341	720341	+	Missense_Mutation	SNP	G	G	A	rs183383238	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:720341G>A	ENST00000406797.1	-	3	374	c.200C>T	c.(199-201)gCg>gTg	p.A67V	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.A67V|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.A67V|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.A67V|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.A67V	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	67	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTTTTGCCGCGCCAAAATCTG	0.607													G|||	5	0.000998403	0.0	0.0	5008	,	,		16495	0.005		0.0	False		,,,				2504	0.0					ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(199-201)gCg>gTg		protein kinase, cAMP-dependent, regulatory, type I, beta							79.0	76.0	77.0					7																	720341		2203	4300	6503	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:720341G>A	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.200C>T	7.37:g.720341G>A	ENSP00000385749:p.Ala67Val					PRKAR1B_ENST00000360274.4_Missense_Mutation_p.A67V|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.A67V|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.A67V|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.A67V	p.A67V	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	3	374	-		Ovarian(82;0.0779)	67			Dimerization and phosphorylation.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.200C>T	CCDS34579.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	7.126	0.578878	0.13686	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.92805	-2.11;-2.11;-2.11;-2.11;-2.11;-3.11;-1.88;-3.09	5.06	3.22	0.36961	.	0.239442	0.33591	N	0.004743	T	0.73552	0.3601	N	0.08118	0	0.48696	D	0.999694	B	0.31100	0.308	B	0.14578	0.011	T	0.69855	-0.5032	10	0.27785	T	0.31	-5.3914	9.7708	0.40589	0.0738:0.0:0.786:0.1401	.	67	P31321	KAP1_HUMAN	V	67;67;67;67;67;67;12;67	ENSP00000440449:A67V;ENSP00000444487:A67V;ENSP00000385749:A67V;ENSP00000385349:A67V;ENSP00000353415:A67V;ENSP00000402648:A67V;ENSP00000394633:A12V;ENSP00000406670:A67V	ENSP00000353415:A67V	A	-	2	0	PRKAR1B	686867	0.995000	0.38212	0.009000	0.14445	0.063000	0.16089	2.697000	0.47060	0.521000	0.28445	-0.258000	0.10820	GCG		0.607	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			7	597	0	0	0	1	0	7	597				
CPSF4	10898	broad.mit.edu	37	7	99051707	99051707	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:99051707G>A	ENST00000292476.5	+	7	699	c.689G>A	c.(688-690)aGc>aAc	p.S230N	CPSF4_ENST00000441580.1_Missense_Mutation_p.S152N|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000436336.2_Missense_Mutation_p.S205N|CPSF4_ENST00000451876.1_Missense_Mutation_p.S172N|ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	230					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGTCAAAACAGCAGCGCGGGC	0.592																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(613-615)aGc>aAc		cleavage and polyadenylation specific factor 4, 30kDa							91.0	105.0	100.0					7																	99051707		2203	4300	6503	SO:0001583	missense	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99051707G>A		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.689G>A	7.37:g.99051707G>A	ENSP00000292476:p.Ser230Asn					CPSF4_ENST00000451876.1_Missense_Mutation_p.S172N|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.S152N|CPSF4_ENST00000292476.5_Missense_Mutation_p.S230N|ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron	p.S205N	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			7	775	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		230					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.614G>A	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.09|15.09	2.731560|2.731560	0.48939|0.48939	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000452047|ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580	T|T;T;T;T	0.34667|0.76839	1.35|-1.05;-1.05;-1.05;-1.05	5.67|5.67	4.68|4.68	0.58851|0.58851	.|.	.|0.157084	.|0.64402	.|D	.|0.000001	T|T	0.51126|0.51126	0.1656|0.1656	N|N	0.04508|0.04508	-0.205|-0.205	0.40200|0.40200	D|D	0.977509|0.977509	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.0;0.001;0.001;0.001	T|T	0.50206|0.50206	-0.8855|-0.8855	7|10	0.11794|0.15952	T|T	0.64|0.53	-21.1406|-21.1406	6.8134|6.8134	0.23817|0.23817	0.1997:0.0:0.8003:0.0|0.1997:0.0:0.8003:0.0	.|.	.|152;204;230;205	.|B7Z7B0;O95639-3;O95639;O95639-2	.|.;.;CPSF4_HUMAN;.	T|N	141|205;172;230;152	ENSP00000392584:A141T|ENSP00000395311:S205N;ENSP00000396060:S172N;ENSP00000292476:S230N;ENSP00000402224:S152N	ENSP00000392584:A141T|ENSP00000292476:S230N	A|S	+|+	1|2	0|0	CPSF4|CPSF4	98889643|98889643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	4.139000|4.139000	0.58024|0.58024	2.686000|2.686000	0.91538|0.91538	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.592	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			7	854	0	0	0	1	0	7	854				
IFT27	11020	broad.mit.edu	37	22	37154369	37154369	+	Missense_Mutation	SNP	G	G	A	rs150387982		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:37154369G>A	ENST00000433985.2	-	7	967	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	IFT27_ENST00000340630.5_Missense_Mutation_p.R182W|IFT27_ENST00000453009.2_Missense_Mutation_p.R142W	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27	183					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCAGGGCCCGGAAAACCTCC	0.473											OREG0026524	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340630.5																			0				endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(544-546)Cgg>Tgg		intraflagellar transport 27 homolog (Chlamydomonas)		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	100.0	108.0	105.0		547,424,544	4.4	0.6	22	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IFT27	NM_001177701.1,NM_001177702.1,NM_006860.3	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	183/187,142/146,182/186	37154369	1,13005	2203	4300	6503	SO:0001583	missense	11020				small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	g.chr22:37154369G>A	Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"""Intraflagellar transport homologs"", ""RAB, member RAS oncogene"""	18626	protein-coding gene	gene with protein product		615870	"""RAB, member of RAS oncogene family-like 4"", ""intraflagellar transport 27 homolog (Chlamydomonas)"""	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544	ENST00000433985.2:c.547C>T	22.37:g.37154369G>A	ENSP00000393541:p.Arg183Trp		OREG0026524	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	868	IFT27_ENST00000453009.2_Missense_Mutation_p.R142W|IFT27_ENST00000433985.2_Missense_Mutation_p.R183W	p.R182W	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN			7	989	-			183					O60897	Missense_Mutation	SNP	ENST00000433985.2	37	c.544C>T	CCDS54523.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535108	0.45073	0.0	1.16E-4	ENSG00000100360	ENST00000340630;ENST00000433985;ENST00000453009	T;T;T	0.72505	-0.48;-0.66;-0.57	5.4	4.38	0.52667	.	.	.	.	.	T	0.53578	0.1805	N	0.08118	0	0.28447	N	0.916531	P;P	0.51147	0.903;0.942	B;B	0.42422	0.216;0.387	T	0.53136	-0.8481	9	0.87932	D	0	.	12.7936	0.57547	0.0802:0.0:0.9198:0.0	.	183;182	Q9BW83;Q9BW83-2	IFT27_HUMAN;.	W	182;183;142	ENSP00000343593:R182W;ENSP00000393541:R183W;ENSP00000405394:R142W	ENSP00000343593:R182W	R	-	1	2	IFT27	35484315	1.000000	0.71417	0.590000	0.28732	0.033000	0.12548	3.642000	0.54367	1.262000	0.44165	0.655000	0.94253	CGG		0.473	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_006860		5	648	0	0	0	1	0	5	648				
CHD3	1107	broad.mit.edu	37	17	7796819	7796819	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:7796819T>C	ENST00000330494.7	+	5	875	c.725T>C	c.(724-726)cTt>cCt	p.L242P	CHD3_ENST00000380358.4_Missense_Mutation_p.L301P|CHD3_ENST00000358181.4_Missense_Mutation_p.L242P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	242					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCCCCCGCCCTTCCACCACCC	0.632																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(901-903)cTt>cCt		chromodomain helicase DNA binding protein 3							30.0	29.0	29.0					17																	7796819		2194	4276	6470	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7796819T>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.725T>C	17.37:g.7796819T>C	ENSP00000332628:p.Leu242Pro					CHD3_ENST00000330494.7_Missense_Mutation_p.L242P|CHD3_ENST00000358181.4_Missense_Mutation_p.L242P	p.L301P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			5	903	+		Prostate(122;0.202)	242					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.902T>C	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245426	0.39697	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90504	-2.68;-2.62;-2.62	3.97	3.97	0.46021	.	0.000000	0.33057	N	0.005327	D	0.89410	0.6707	N	0.14661	0.345	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.78314	0.991;0.979;0.979	D	0.87932	0.2711	10	0.30078	T	0.28	-12.7931	12.7918	0.57539	0.0:0.0:0.0:1.0	.	242;242;301	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	P	301;242;242	ENSP00000369716:L301P;ENSP00000350907:L242P;ENSP00000332628:L242P	ENSP00000332628:L242P	L	+	2	0	CHD3	7737544	0.827000	0.29292	1.000000	0.80357	0.984000	0.73092	2.257000	0.43240	2.031000	0.59945	0.454000	0.30748	CTT		0.632	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		10	101	0	0	0	1	0	10	101				
ATP2B2	491	broad.mit.edu	37	3	10442753	10442753	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:10442753A>G	ENST00000352432.4	-	4	734	c.665T>C	c.(664-666)cTc>cCc	p.L222P	ATP2B2_ENST00000360273.2_Missense_Mutation_p.L222P|ATP2B2_ENST00000383800.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000343816.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000397077.1_Missense_Mutation_p.L222P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	222					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCGGCAGGGAGGAGGTCACC	0.567																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(664-666)cTc>cCc		ATPase, Ca++ transporting, plasma membrane 2							70.0	66.0	67.0					3																	10442753		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10442753A>G	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.665T>C	3.37:g.10442753A>G	ENSP00000324172:p.Leu222Pro					ATP2B2_ENST00000383800.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000343816.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000360273.2_Missense_Mutation_p.L222P|ATP2B2_ENST00000352432.4_Missense_Mutation_p.L222P	p.L222P			Q01814	AT2B2_HUMAN			7	1240	-			222					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.665T>C	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314875	0.81358	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.96098	0.9067	10	0.87932	D	0	-32.0976	15.7913	0.78367	1.0:0.0:0.0:0.0	.	222;234;222	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	P	222;222;222;222;222;188;109;222	ENSP00000324172:L222P;ENSP00000373311:L222P;ENSP00000380267:L222P;ENSP00000353414:L222P;ENSP00000344677:L222P;ENSP00000414854:L109P	ENSP00000342954:L222P	L	-	2	0	ATP2B2	10417753	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.313000	0.96297	2.124000	0.65301	0.528000	0.53228	CTC		0.567	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		7	165	0	0	0	1	0	7	165				
FAM104B	90736	broad.mit.edu	37	X	55172572	55172572	+	Intron	SNP	G	G	A	rs111573608		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:55172572G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000477847.2_Missense_Mutation_p.T95I|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_Missense_Mutation_p.T97I|FAM104B_ENST00000425133.2_Missense_Mutation_p.T99I			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B											endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						CTCCTTCAAGGTCTGGTTGAT	0.448																																						ENST00000425133.2																			0				endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(295-297)aCc>aTc		family with sequence similarity 104, member B							61.0	52.0	55.0					X																	55172572		2203	4299	6502	SO:0001627	intron_variant	90736							g.chrX:55172572G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+41C>T	X.37:g.55172572G>A						FAM104B_ENST00000489298.1_Missense_Mutation_p.T97I|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000477847.2_Missense_Mutation_p.T95I	p.T99I	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	334	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	c.296C>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	3.194	-0.165131	0.06502	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	T;T;T	0.37411	1.2;1.2;1.2	1.6	-3.2	0.05156	.	.	.	.	.	T	0.12774	0.0310	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31223	-0.9951	9	0.02654	T	1	.	6.3236	0.21231	0.5556:0.0:0.4444:0.0	.	99	Q5XKR9-3	.	I	99;95;97	ENSP00000397188:T99I;ENSP00000421161:T95I;ENSP00000423164:T97I	ENSP00000397188:T99I	T	-	2	0	FAM104B	55189297	0.904000	0.30761	0.033000	0.17914	0.642000	0.38348	-0.117000	0.10708	-1.373000	0.02134	-1.846000	0.00573	ACC		0.448	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		5	448	0	0	0	1	0	5	448				
OR8B12	219858	broad.mit.edu	37	11	124413456	124413456	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:124413456C>T	ENST00000306842.2	-	1	119	c.95G>A	c.(94-96)gGt>gAt	p.G32D		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CGTGTAGAAACCCAGAAACAG	0.512																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(94-96)gGt>gAt		olfactory receptor, family 8, subfamily B, member 12							58.0	62.0	61.0					11																	124413456		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413456C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.95G>A	11.37:g.124413456C>T	ENSP00000307159:p.Gly32Asp						p.G32D	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	119	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	32					B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.95G>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932336	0.18131	.	.	ENSG00000170953	ENST00000306842	T	0.00441	7.41	3.89	1.92	0.25849	.	0.739643	0.12351	N	0.476555	T	0.00412	0.0013	M	0.64676	1.99	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.34104	-0.9842	10	0.35671	T	0.21	.	9.0627	0.36444	0.2929:0.5648:0.1422:0.0	.	32	Q8NGG6	OR8BC_HUMAN	D	32	ENSP00000307159:G32D	ENSP00000307159:G32D	G	-	2	0	OR8B12	123918666	0.000000	0.05858	0.075000	0.20258	0.874000	0.50279	0.248000	0.18198	0.550000	0.28991	0.650000	0.86243	GGT		0.512	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			16	499	0	0	0	1	0	16	499				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	162	0	0	0	1	0	4	162				
PREX1	57580	broad.mit.edu	37	20	47324868	47324868	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:47324868T>C	ENST00000371941.3	-	6	735	c.713A>G	c.(712-714)aAt>aGt	p.N238S	PREX1_ENST00000396220.1_Missense_Mutation_p.N238S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	238	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTTGGTCTCATTGATGTTGGA	0.627																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(712-714)aAt>aGt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							135.0	138.0	137.0					20																	47324868		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47324868T>C	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.713A>G	20.37:g.47324868T>C	ENSP00000361009:p.Asn238Ser					PREX1_ENST00000371941.3_Missense_Mutation_p.N238S	p.N238S			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		6	735	-			238			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.713A>G	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.898230	0.91962	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.75589	-0.95;-0.95	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.64402	U	0.000019	D	0.88250	0.6386	H	0.98089	4.145	0.80722	D	1	P	0.39551	0.678	P	0.47075	0.536	D	0.91608	0.5300	10	0.87932	D	0	.	15.8578	0.78994	0.0:0.0:0.0:1.0	.	238	Q8TCU6	PREX1_HUMAN	S	238	ENSP00000361009:N238S;ENSP00000379522:N238S	ENSP00000361009:N238S	N	-	2	0	PREX1	46758275	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	7.698000	0.84413	2.147000	0.66899	0.533000	0.62120	AAT		0.627	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		436	927	0	0	0	1	0	436	927				
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AGTACTGGAAGAACGTGGTTG	0.373																																						ENST00000400153.2																			0																																																			0							g.chr15:23205094G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205094G>A								NR_003521.1						0	760	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	79	0	0	0	1	0	4	79				
EIF3D	8664	broad.mit.edu	37	22	36915498	36915498	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:36915498C>T	ENST00000216190.8	-	8	1035	c.665G>A	c.(664-666)cGc>cAc	p.R222H	EIF3D_ENST00000541106.1_Missense_Mutation_p.R173H|EIF3D_ENST00000405442.1_Missense_Mutation_p.R222H	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTGGAAGATGCGCTTGATGCT	0.567																																						ENST00000216190.8																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(664-666)cGc>cAc		eukaryotic translation initiation factor 3, subunit D							267.0	214.0	232.0					22																	36915498		2203	4300	6503	SO:0001583	missense	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36915498C>T	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.665G>A	22.37:g.36915498C>T	ENSP00000216190:p.Arg222His					EIF3D_ENST00000405442.1_Missense_Mutation_p.R222H|EIF3D_ENST00000541106.1_Missense_Mutation_p.R173H	p.R222H	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN			8	1035	-			222						Missense_Mutation	SNP	ENST00000216190.8	37	c.665G>A	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	36	5.693888	0.96793	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.976;0.99	D	0.86823	0.2006	9	0.72032	D	0.01	0.1102	20.5792	0.99380	0.0:1.0:0.0:0.0	.	173;222	B4DVY1;O15371	.;EIF3D_HUMAN	H	222;207;173;222;222	.	ENSP00000216190:R222H	R	-	2	0	EIF3D	35245444	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.419000	0.80179	2.873000	0.98535	0.561000	0.74099	CGC		0.567	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			159	418	0	0	0	1	0	159	418				
SLC7A10	56301	broad.mit.edu	37	19	33699875	33699875	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:33699875G>A	ENST00000253188.4	-	11	1640	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	CTD-2540B15.13_ENST00000609744.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	498					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CTTCGGGGGCGTCCTGGGGGT	0.602																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(1492-1494)gaC>gaT		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							35.0	39.0	37.0					19																	33699875		2202	4300	6502	SO:0001819	synonymous_variant	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33699875G>A	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1494C>T	19.37:g.33699875G>A							p.D498D	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			11	1640	-	Esophageal squamous(110;0.137)		498					B2RE84	Silent	SNP	ENST00000253188.4	37	c.1494C>T	CCDS12431.1																																																																																				0.602	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		66	159	0	0	0	1	0	66	159				
DMXL2	23312	broad.mit.edu	37	15	51772810	51772810	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:51772810G>A	ENST00000251076.5	-	24	6780	c.6493C>T	c.(6493-6495)Cat>Tat	p.H2165Y	DMXL2_ENST00000543779.2_Missense_Mutation_p.H2165Y|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.H1529Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2165						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGGCCCCATGAAGGCTACAG	0.428																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(6493-6495)Cat>Tat		Dmx-like 2							101.0	105.0	104.0					15																	51772810		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772810G>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6493C>T	15.37:g.51772810G>A	ENSP00000251076:p.His2165Tyr					DMXL2_ENST00000449909.3_Missense_Mutation_p.H1529Y|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.H2165Y	p.H2165Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6780	-			2165					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.6493C>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553488	0.86127	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.79749	-1.3;-1.3;-1.3	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.90051	0.6893	M	0.76727	2.345	0.80722	D	1	D;P;D;D	0.89917	1.0;0.936;0.994;0.998	D;P;D;D	0.87578	0.998;0.885;0.977;0.948	D	0.89821	0.3989	10	0.59425	D	0.04	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	2165;1529;2165;2165	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Y	2165;2165;1529	ENSP00000251076:H2165Y;ENSP00000441858:H2165Y;ENSP00000400855:H1529Y	ENSP00000251076:H2165Y	H	-	1	0	DMXL2	49560102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.729000	0.93468	0.655000	0.94253	CAT		0.428	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		8	513	0	0	0	1	0	8	513				
PHF5A	84844	broad.mit.edu	37	22	41863571	41863571	+	Missense_Mutation	SNP	G	G	C	rs569271036		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:41863571G>C	ENST00000216252.3	-	3	195	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V	ACO2_ENST00000216254.4_5'Flank|PHF5A_ENST00000491254.1_5'UTR|ACO2_ENST00000396512.3_5'Flank	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	42					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATGCGCACCAGAGTGCAGGGA	0.493																																					Ovarian(15;130 571 1826 2981 46141)	ENST00000216252.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(124-126)Ctg>Gtg		PHD finger protein 5A							113.0	97.0	102.0					22																	41863571		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41863571G>C	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"""Zinc fingers, PHD-type"""	18000	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 7"""					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.124C>G	22.37:g.41863571G>C	ENSP00000216252:p.Leu42Val					PHF5A_ENST00000491254.1_5'UTR	p.L42V	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN			3	195	-			42					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.124C>G	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064935	0.55432	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.72353	2.195	0.80722	D	1	B	0.30664	0.289	B	0.40940	0.344	T	0.65957	-0.6042	9	0.41790	T	0.15	-12.734	11.3569	0.49621	0.1449:0.0:0.8551:0.0	.	42	Q7RTV0	PHF5A_HUMAN	V	42	.	ENSP00000216252:L42V	L	-	1	2	PHF5A	40193517	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.705000	0.54823	1.476000	0.48215	0.655000	0.94253	CTG		0.493	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		7	404	0	0	0	1	0	7	404				
BSN	8927	broad.mit.edu	37	3	49690204	49690204	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:49690204G>A	ENST00000296452.4	+	5	3329	c.3215G>A	c.(3214-3216)cGc>cAc	p.R1072H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1072					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCACGGCCCGCAAGACCCGG	0.652																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(3214-3216)cGc>cAc		bassoon presynaptic cytomatrix protein							34.0	39.0	37.0					3																	49690204		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690204G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3215G>A	3.37:g.49690204G>A	ENSP00000296452:p.Arg1072His						p.R1072H	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3329	+			1072					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.3215G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313063	0.60414	.	.	ENSG00000164061	ENST00000296452	T	0.24151	1.87	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.68952	2.095	0.50171	D	0.999851	D	0.89917	1.0	D	0.71656	0.974	T	0.54476	-0.8288	10	0.72032	D	0.01	.	18.0791	0.89437	0.0:0.0:1.0:0.0	.	1072	Q9UPA5	BSN_HUMAN	H	1072	ENSP00000296452:R1072H	ENSP00000296452:R1072H	R	+	2	0	BSN	49665208	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.807000	0.99171	2.357000	0.79964	0.561000	0.74099	CGC		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	193	0	0	0	1	0	5	193				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		9	902	0	0	0	1	0	9	902				
CDH22	64405	broad.mit.edu	37	20	44828152	44828152	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:44828152C>G	ENST00000372262.3	-	7	1733	c.1333G>C	c.(1333-1335)Gat>Cat	p.D445H	CDH22_ENST00000537909.1_Missense_Mutation_p.D445H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GTGTCCGCATCGATATCGAAG	0.637																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1333-1335)Gat>Cat		cadherin 22, type 2							66.0	50.0	55.0					20																	44828152		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44828152C>G	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1333G>C	20.37:g.44828152C>G	ENSP00000361336:p.Asp445His					CDH22_ENST00000537909.1_Missense_Mutation_p.D445H	p.D445H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			7	1733	-		Myeloproliferative disorder(115;0.0122)	445			Cadherin 4.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1333G>C	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183686	0.57800	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.65732	-0.17;-0.17	5.0	4.06	0.47325	Cadherin (4);Cadherin-like (1);	0.054615	0.64402	D	0.000001	T	0.78142	0.4237	M	0.83118	2.625	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	T	0.78494	-0.2182	10	0.42905	T	0.14	.	11.1009	0.48174	0.0:0.9137:0.0:0.0863	.	445	Q9UJ99	CAD22_HUMAN	H	445	ENSP00000361336:D445H;ENSP00000437790:D445H	ENSP00000361336:D445H	D	-	1	0	CDH22	44261559	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.606000	0.61126	1.228000	0.43614	0.555000	0.69702	GAT		0.637	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		13	164	0	0	0	1	0	13	164				
SRGAP1	57522	broad.mit.edu	37	12	64536271	64536271	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:64536271G>A	ENST00000355086.3	+	22	3601	c.3077G>A	c.(3076-3078)cGt>cAt	p.R1026H	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R963H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R1003H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1026					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGATTCGACGTAGCACGAGC	0.562																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(3076-3078)cGt>cAt		SLIT-ROBO Rho GTPase activating protein 1							129.0	107.0	114.0					12																	64536271		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64536271G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3077G>A	12.37:g.64536271G>A	ENSP00000347198:p.Arg1026His					SRGAP1_ENST00000543397.1_Missense_Mutation_p.R963H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R1003H	p.R1026H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3601	+			1026					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.3077G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412989	0.83449	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.34667	1.35;1.35;1.35	6.04	6.04	0.98038	.	0.000000	0.34002	U	0.004357	T	0.50667	0.1629	M	0.62723	1.935	0.80722	D	1	P;D	0.64830	0.757;0.994	B;P	0.51415	0.095;0.669	T	0.37220	-0.9715	9	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1026;963	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	1026;1003;963	ENSP00000347198:R1026H;ENSP00000350480:R1003H;ENSP00000437948:R963H	.	R	+	2	0	SRGAP1	62822538	1.000000	0.71417	0.527000	0.27925	0.080000	0.17528	6.584000	0.74057	2.873000	0.98535	0.563000	0.77884	CGT		0.562	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			21	364	0	0	0	1	0	21	364				
ZNF318	24149	broad.mit.edu	37	6	43322499	43322499	+	Missense_Mutation	SNP	G	G	A	rs374413744		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:43322499G>A	ENST00000361428.2	-	4	2650	c.2573C>T	c.(2572-2574)gCg>gTg	p.A858V	ZNF318_ENST00000318149.3_Missense_Mutation_p.A858V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	858					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTTGGGCCGCAGGAATTGA	0.498																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(2572-2574)gCg>gTg		zinc finger protein 318							182.0	165.0	171.0					6																	43322499		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43322499G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2573C>T	6.37:g.43322499G>A	ENSP00000354964:p.Ala858Val					ZNF318_ENST00000318149.3_Missense_Mutation_p.A858V	p.A858V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2650	-			858					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2573C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	2.505	-0.314280	0.05422	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.29917	1.55;2.8	5.79	0.789	0.18607	.	1.296480	0.04786	N	0.430667	T	0.03178	0.0093	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32241	-0.9914	10	0.10902	T	0.67	5.7644	4.9415	0.13967	0.2936:0.0:0.5709:0.1355	.	858	Q5VUA4	ZN318_HUMAN	V	858	ENSP00000323032:A858V;ENSP00000354964:A858V	ENSP00000323032:A858V	A	-	2	0	ZNF318	43430477	0.019000	0.18553	0.001000	0.08648	0.791000	0.44710	0.712000	0.25779	-0.148000	0.11234	0.655000	0.94253	GCG		0.498	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		5	410	0	0	0	1	0	5	410				
GTF3C5	9328	broad.mit.edu	37	9	135933322	135933322	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:135933322C>T	ENST00000372097.5	+	11	1838	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	GTF3C5_ENST00000372099.6_Silent_p.D496D|GTF3C5_ENST00000372108.5_Silent_p.D512D|GTF3C5_ENST00000342018.8_Silent_p.D443D	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	505	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGCCATCCGACGGCAGTGAAA	0.582																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(1513-1515)gaC>gaT		general transcription factor IIIC, polypeptide 5, 63kDa							114.0	95.0	101.0					9																	135933322		2203	4300	6503	SO:0001819	synonymous_variant	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135933322C>T	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1515C>T	9.37:g.135933322C>T						GTF3C5_ENST00000372108.5_Silent_p.D512D|GTF3C5_ENST00000372099.6_Silent_p.D496D|GTF3C5_ENST00000342018.8_Silent_p.D443D	p.D505D	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	11	1838	+			505			Glu-rich.		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	ENST00000372097.5	37	c.1515C>T	CCDS6958.1																																																																																				0.582	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		5	339	0	0	0	1	0	5	339				
MOGS	7841	broad.mit.edu	37	2	74689698	74689698	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:74689698G>A	ENST00000233616.4	-	4	1380	c.1218C>T	c.(1216-1218)taC>taT	p.Y406Y	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.Y300Y|MOGS_ENST00000462443.1_5'Flank	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	406					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCCCTTGTCCGTAGAAGTAGC	0.582																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1216-1218)taC>taT		mannosyl-oligosaccharide glucosidase							105.0	116.0	112.0					2																	74689698		1948	4131	6079	SO:0001819	synonymous_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689698G>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1218C>T	2.37:g.74689698G>A						MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.Y300Y	p.Y406Y	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1380	-			406					A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	ENST00000233616.4	37	c.1218C>T	CCDS42700.1																																																																																				0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		6	980	0	0	0	1	0	6	980				
CYP2R1	120227	broad.mit.edu	37	11	14913531	14913531	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:14913531C>G	ENST00000334636.5	-	1	267	c.221G>C	c.(220-222)gGa>gCa	p.G74A	CYP2R1_ENST00000532378.1_5'Flank|CYP2R1_ENST00000526489.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	74					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTGTACCTCTCCGTACACCTG	0.682																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(220-222)gGa>gCa		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						23.0	25.0	24.0					11																	14913531		2200	4294	6494	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14913531C>G	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.221G>C	11.37:g.14913531C>G	ENSP00000334592:p.Gly74Ala						p.G74A	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN			1	267	-			74					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.221G>C	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301978	0.95601	.	.	ENSG00000186104	ENST00000334636	D	0.86230	-2.09	5.12	5.12	0.69794	.	0.053179	0.85682	D	0.000000	D	0.95730	0.8611	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96785	0.9578	10	0.87932	D	0	.	18.7483	0.91802	0.0:1.0:0.0:0.0	.	74	Q6VVX0	CP2R1_HUMAN	A	74	ENSP00000334592:G74A	ENSP00000334592:G74A	G	-	2	0	CYP2R1	14870107	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.224000	0.65288	2.665000	0.90641	0.462000	0.41574	GGA		0.682	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		56	86	0	0	0	1	0	56	86				
ABCA9	10350	broad.mit.edu	37	17	66982398	66982398	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:66982398G>A	ENST00000340001.4	-	32	4326	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	ABCA9_ENST00000453985.2_Missense_Mutation_p.A1334V|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_Missense_Mutation_p.A1372V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1372	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGGCCACAGCGCATTCTCCTG	0.547																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4114-4116)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 9							128.0	105.0	113.0					17																	66982398		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66982398G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4115C>T	17.37:g.66982398G>A	ENSP00000342216:p.Ala1372Val					ABCA9_ENST00000453985.2_Missense_Mutation_p.A1334V|ABCA9_ENST00000370732.2_Missense_Mutation_p.A1372V	p.A1372V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			32	4326	-	Breast(10;1.47e-12)		1372			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4115C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	6.831	0.522583	0.13066	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.93763	-3.28;-3.28	4.87	1.18	0.20946	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.054980	0.07551	N	0.915471	D	0.86322	0.5905	L	0.31120	0.905	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.14023	0.006;0.01	T	0.70436	-0.4872	10	0.20519	T	0.43	.	3.7669	0.08626	0.3409:0.0:0.4915:0.1676	.	1372;1372	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	1372;1317;1372	ENSP00000342216:A1372V;ENSP00000359767:A1372V	ENSP00000342216:A1372V	A	-	2	0	ABCA9	64493993	0.007000	0.16637	0.037000	0.18230	0.203000	0.24098	1.114000	0.31196	-0.000000	0.14550	0.655000	0.94253	GCG		0.547	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		5	502	0	0	0	1	0	5	502				
POPDC3	64208	broad.mit.edu	37	6	105609437	105609437	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:105609437G>A	ENST00000254765.3	-	2	626	c.348C>T	c.(346-348)ttC>ttT	p.F116F	BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	116					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CCAGGGGCTGGAAAAGGGAGC	0.443																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.(346-348)ttC>ttT		popeye domain containing 3							138.0	148.0	145.0					6																	105609437		2203	4300	6503	SO:0001819	synonymous_variant	64208					integral to membrane		g.chr6:105609437G>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.348C>T	6.37:g.105609437G>A						BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_Intron	p.F116F	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			2	626	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	116					B2RA98|Q5T3Y8|Q8TBW6	Silent	SNP	ENST00000254765.3	37	c.348C>T	CCDS5052.1																																																																																				0.443	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		315	354	0	0	0	1	0	315	354				
TBC1D8B	54885	broad.mit.edu	37	X	106111641	106111641	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:106111641C>T	ENST00000357242.5	+	18	2921	c.2747C>T	c.(2746-2748)tCt>tTt	p.S916F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.S910F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	916							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAGTGAAATCTAAGGATGCT	0.343																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2746-2748)tCt>tTt		TBC1 domain family, member 8B (with GRAM domain)							84.0	77.0	80.0					X																	106111641		2202	4299	6501	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106111641C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2747C>T	X.37:g.106111641C>T	ENSP00000349781:p.Ser916Phe					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.S910F	p.S916F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			18	2921	+			916					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2747C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514460	0.27123	.	.	ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972	T;T	0.08720	3.06;3.06	5.88	2.91	0.33838	EF-hand-like domain (1);	0.641843	0.14963	N	0.288267	T	0.07818	0.0196	L	0.59436	1.845	0.25619	N	0.986428	B	0.15473	0.013	B	0.17979	0.02	T	0.47058	-0.9146	10	0.09338	T	0.73	1.5005	5.2383	0.15458	0.1503:0.6334:0.1307:0.0856	.	916	Q0IIM8	TBC8B_HUMAN	F	916;910;178	ENSP00000349781:S916F;ENSP00000276175:S910F	ENSP00000276175:S910F	S	+	2	0	TBC1D8B	105998297	0.551000	0.26497	0.029000	0.17559	0.958000	0.62258	1.060000	0.30530	0.140000	0.18849	0.600000	0.82982	TCT		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		11	258	0	0	0	1	0	11	258				
BMS1P20	96610	broad.mit.edu	37	22	22664241	22664241	+	RNA	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:22664241G>A	ENST00000426066.1	+	0	764					NR_027293.1				BMS1 pseudogene 20																		ATAAGCTGCTGATGAGCGGTG	0.532																																						ENST00000426066.1																			0																																																			0							g.chr22:22664241G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664241G>A								NR_027293.1						0	764	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.532	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	473	0	0	0	1	0	7	473				
AFF3	3899	broad.mit.edu	37	2	100623429	100623429	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:100623429G>T	ENST00000409236.2	-	5	650	c.538C>A	c.(538-540)Cag>Aag	p.Q180K	AFF3_ENST00000317233.4_Missense_Mutation_p.Q180K|AFF3_ENST00000409579.1_Missense_Mutation_p.Q205K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q205K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	180					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCCGAGGCTGCTGTCTGCCA	0.582																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(538-540)Cag>Aag		AF4/FMR2 family, member 3							48.0	50.0	50.0					2																	100623429		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623429G>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.538C>A	2.37:g.100623429G>T	ENSP00000387207:p.Gln180Lys					AFF3_ENST00000409579.1_Missense_Mutation_p.Q205K|AFF3_ENST00000409236.1_Missense_Mutation_p.Q180K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q205K	p.Q180K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			6	773	-			180					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.538C>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375513	0.24857	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.36	4.48	0.54585	.	0.250032	0.28317	N	0.015799	T	0.53077	0.1774	N	0.08118	0	0.26248	N	0.978761	B;B;D;B;B	0.59357	0.425;0.372;0.985;0.425;0.372	B;B;D;B;B	0.73708	0.192;0.085;0.981;0.192;0.121	T	0.48258	-0.9051	10	0.06236	T	0.91	.	8.8744	0.35337	0.0751:0.0:0.7765:0.1484	.	334;334;180;180;205	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	K	180;205;205;180;180;334;205	ENSP00000317421:Q180K;ENSP00000348793:Q205K;ENSP00000386834:Q205K;ENSP00000387207:Q180K	ENSP00000317421:Q180K	Q	-	1	0	AFF3	99989861	1.000000	0.71417	0.988000	0.46212	0.886000	0.51366	6.148000	0.71788	1.259000	0.44117	0.585000	0.79938	CAG		0.582	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		22	361	1	0	3.62473e-10	1	3.85073e-10	22	361				
IQCC	55721	broad.mit.edu	37	1	32672714	32672714	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:32672714G>A	ENST00000291358.6	+	4	572	c.551G>A	c.(550-552)cGt>cAt	p.R184H	IQCC_ENST00000537469.1_Missense_Mutation_p.R264H|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	184										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATCAATAGCCGTAAGGAGGTA	0.547																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(790-792)cGt>cAt		IQ motif containing C							123.0	129.0	127.0					1																	32672714		2203	4300	6503	SO:0001583	missense	55721							g.chr1:32672714G>A	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.551G>A	1.37:g.32672714G>A	ENSP00000291358:p.Arg184His					IQCC_ENST00000291358.6_Missense_Mutation_p.R184H	p.R264H	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			4	838	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	184					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.791G>A	CCDS355.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528552	0.85706	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.12255	2.7;2.7	4.96	4.05	0.47172	.	0.000000	0.53938	D	0.000046	T	0.21103	0.0508	M	0.70595	2.14	0.53688	D	0.999975	D;P	0.54772	0.968;0.877	P;B	0.45276	0.475;0.343	T	0.05178	-1.0901	10	0.87932	D	0	-9.9452	13.3085	0.60365	0.0783:0.0:0.9217:0.0	.	264;184	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	H	264;184	ENSP00000442291:R264H;ENSP00000291358:R184H	ENSP00000291358:R184H	R	+	2	0	IQCC	32445301	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	8.453000	0.90349	1.238000	0.43771	-0.258000	0.10820	CGT		0.547	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		6	967	0	0	0	1	0	6	967				
PNKD	25953	broad.mit.edu	37	2	219204548	219204548	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:219204548C>T	ENST00000273077.4	+	3	330	c.279C>T	c.(277-279)taC>taT	p.Y93Y	PNKD_ENST00000436005.2_Silent_p.Y33Y|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Silent_p.Y69Y	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	93					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTCTTCTACCGACAGCAGC	0.607																																						ENST00000273077.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						c.(277-279)taC>taT		paroxysmal nonkinesigenic dyskinesia							56.0	57.0	56.0					2																	219204548		2203	4300	6503	SO:0001819	synonymous_variant	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219204548C>T		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.279C>T	2.37:g.219204548C>T						PNKD_ENST00000258362.3_Silent_p.Y69Y|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Silent_p.Y33Y	p.Y93Y	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	330	+		Renal(207;0.0474)	93					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Silent	SNP	ENST00000273077.4	37	c.279C>T	CCDS2411.1																																																																																				0.607	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			8	186	0	0	0	1	0	8	186				
PRX	57716	broad.mit.edu	37	19	40900573	40900573	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:40900573C>T	ENST00000324001.7	-	7	3956	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1229	Glu-rich (acidic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGCCTCTCGGCTTAGCCC	0.677																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(3685-3687)cGa>cAa		periaxin							40.0	39.0	39.0					19																	40900573		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900573C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3686G>A	19.37:g.40900573C>T	ENSP00000326018:p.Arg1229Gln					PRX_ENST00000291825.7_3'UTR	p.R1229Q	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3956	-			1229			Glu-rich (acidic).		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.3686G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616264	0.28801	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01043	5.41	4.99	1.46	0.22682	.	0.789709	0.10820	N	0.630577	T	0.01124	0.0037	L	0.36672	1.1	0.09310	N	0.999995	P	0.51791	0.948	B	0.39503	0.301	T	0.54450	-0.8292	10	0.34782	T	0.22	-0.1423	6.6701	0.23064	0.0:0.5058:0.0:0.4942	.	1229	Q9BXM0	PRAX_HUMAN	Q	1229;1164	ENSP00000326018:R1229Q	ENSP00000326018:R1229Q	R	-	2	0	PRX	45592413	0.011000	0.17503	0.566000	0.28421	0.631000	0.37964	0.073000	0.14640	0.529000	0.28599	0.561000	0.74099	CGA		0.677	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		14	480	0	0	0	1	0	14	480				
KLHL1	57626	broad.mit.edu	37	13	70681816	70681816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:70681816G>A	ENST00000377844.4	-	1	775	c.16C>T	c.(16-18)Cga>Tga	p.R6*	KLHL1_ENST00000545028.1_5'Flank|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	6					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGTCTTTTCGCCCAGAGCCT	0.647																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(16-18)Cga>Tga		kelch-like family member 1							18.0	21.0	20.0					13																	70681816		2201	4295	6496	SO:0001587	stop_gained	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681816G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.16C>T	13.37:g.70681816G>A	ENSP00000367075:p.Arg6*					ATXN8OS_ENST00000414504.2_RNA	p.R6*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	775	-		Breast(118;0.000162)	6					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Nonsense_Mutation	SNP	ENST00000377844.4	37	c.16C>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	44	11.251559	0.99537	.	.	ENSG00000150361	ENST00000377844	.	.	.	5.18	-3.56	0.04626	.	0.000000	0.36703	N	0.002455	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8523	0.52417	0.0:0.0873:0.1916:0.7211	.	.	.	.	X	6	.	ENSP00000367075:R6X	R	-	1	2	KLHL1	69579817	0.596000	0.26866	0.966000	0.40874	0.997000	0.91878	0.042000	0.13949	-0.483000	0.06772	0.655000	0.94253	CGA		0.647	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		57	120	0	0	0	1	0	57	120				
IFT172	26160	broad.mit.edu	37	2	27670430	27670430	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:27670430G>A	ENST00000260570.3	-	42	4714	c.4611C>T	c.(4609-4611)atC>atT	p.I1537I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1537					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGTAATGAGCGATCAGCAGCA	0.542																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(4609-4611)atC>atT		intraflagellar transport 172 homolog (Chlamydomonas)							140.0	124.0	129.0					2																	27670430		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27670430G>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4611C>T	2.37:g.27670430G>A							p.I1537I	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			42	4714	-	Acute lymphoblastic leukemia(172;0.155)		1537					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.4611C>T	CCDS1755.1																																																																																				0.542	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		7	603	0	0	0	1	0	7	603				
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C	rs370500896	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542													G|||	18	0.00359425	0.0	0.0	5008	,	,		22692	0.0		0.001	False		,,,				2504	0.0174					ENST00000418868.1																			0																																																			0							g.chr3:197348634G>C																													3.37:g.197348634G>C								NR_003266.2						0	625	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.542	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			12	438	0	0	0	1	0	12	438				
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14.0	19.0	17.0					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	200	0	0	0	1	0	4	200				
SPATA31C1	441452	broad.mit.edu	37	9	90535452	90535452	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:90535452C>T	ENST00000602681.1	+	0	1356							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCCCTCACCCGAGCCACCTG	0.632																																						ENST00000602681.1																			0																				78.0	70.0	73.0					9																	90535452		692	1591	2283			0							g.chr9:90535452C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535452C>T														0	1356	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.632	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		93	1120	0	0	0	1	0	93	1120				
ARMC9	80210	broad.mit.edu	37	2	232104753	232104753	+	Splice_Site	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:232104753C>T	ENST00000349938.4	+	9	1072	c.878C>T	c.(877-879)aCg>aTg	p.T293M	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	293						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGGCCTGGGACGGTGAGGCTC	0.522																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.e9+1		armadillo repeat containing 9							57.0	46.0	50.0					2																	232104753		2203	4300	6503	SO:0001630	splice_region_variant	80210						binding	g.chr2:232104753C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.879+1C>T	2.37:g.232104753C>T						ARMC9_ENST00000483477.1_3'UTR	p.T293_splice	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	9	1072	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	293					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Splice_Site	SNP	ENST00000349938.4	37	c.879_splice	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581425	0.65992	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T;T	0.45276	2.08;0.9	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.66148	-0.5996	10	0.62326	D	0.03	-19.4815	16.518	0.84306	0.0:1.0:0.0:0.0	.	293	Q7Z3E5	ARMC9_HUMAN	M	293;293;47	ENSP00000258417:T293M;ENSP00000407146:T47M	ENSP00000258417:T293M	T	+	2	0	ARMC9	231812997	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.989000	0.76219	2.309000	0.77851	0.561000	0.74099	ACG		0.522	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139	Missense_Mutation	50	61	0	0	0	1	0	50	61				
NFS1	9054	broad.mit.edu	37	20	34262340	34262340	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:34262340G>A	ENST00000374092.4	-	10	1138	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	NFS1_ENST00000374085.1_Silent_p.L296L|NFS1_ENST00000540053.1_Silent_p.L154L|NFS1_ENST00000541387.1_Silent_p.L305L|NFS1_ENST00000498084.1_5'Flank|NFS1_ENST00000397425.1_Silent_p.L296L|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.S16F	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	356					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	ATGCAAAGGAGAGGTTGATAC	0.522																																						ENST00000374092.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1066-1068)ctC>ctT		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						111.0	103.0	106.0					20																	34262340		2203	4300	6503	SO:0001819	synonymous_variant	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34262340G>A	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1068C>T	20.37:g.34262340G>A						NFS1_ENST00000541387.1_Silent_p.L305L|NFS1_ENST00000540053.1_Silent_p.L154L|NFS1_ENST00000374085.1_Silent_p.L296L|NFS1_ENST00000397425.1_Silent_p.L296L	p.L356L	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		10	1138	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		356					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Silent	SNP	ENST00000374092.4	37	c.1068C>T	CCDS13262.1																																																																																				0.522	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		8	603	0	0	0	1	0	8	603				
KRTAP4-6	81871	broad.mit.edu	37	17	39296431	39296431	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:39296431A>G	ENST00000345847.4	-	1	308	c.309T>C	c.(307-309)acT>acC	p.T103T		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	103	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GACGGCAGCAAGTGGGCTGGC	0.652																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(307-309)acT>acC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296431A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.309T>C	17.37:g.39296431A>G							p.T103T	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	308	-			99			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.309T>C	CCDS54125.1																																																																																				0.652	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			5	330	0	0	0	1	0	5	330				
TSSC2	650368	broad.mit.edu	37	11	3427830	3427830	+	RNA	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:3427830G>A	ENST00000529482.1	+	0	947									tumor suppressing subtransferable candidate 2 pseudogene																		TGTGTGTGCCGTGAACTTCAA	0.582																																						ENST00000529482.1																			0																																																			0							g.chr11:3427830G>A			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427830G>A														0	947	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.582	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			8	257	0	0	0	1	0	8	257				
IGLL5	100423062	broad.mit.edu	37	22	23237723	23237723	+	Missense_Mutation	SNP	A	A	C	rs569843724		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23237723A>C	ENST00000526893.1	+	3	768	c.494A>C	c.(493-495)aAa>aCa	p.K165T	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000532223.2_Missense_Mutation_p.K166T|IGLJ1_ENST00000390320.2_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	165	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GAGACCACCAAACCCTCCAAA	0.602													N|||	1	0.000199681	0.0008	0.0	5008	,	,		13346	0.0		0.0	False		,,,				2504	0.0					ENST00000532223.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						c.(496-498)aAa>aCa		immunoglobulin lambda-like polypeptide 5							89.0	90.0	90.0					22																	23237723		2202	4295	6497	SO:0001583	missense	100423062					extracellular region		g.chr22:23237723A>C	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"""Immunoglobulin superfamily / C1-set domain containing"""	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.494A>C	22.37:g.23237723A>C	ENSP00000431254:p.Lys165Thr					IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Missense_Mutation_p.K165T	p.K166T			B9A064	IGLL5_HUMAN			3	771	+			165			C region (By similarity to lambda light- chain).|Ig-like C1-type.			Missense_Mutation	SNP	ENST00000526893.1	37	c.497A>C	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.289688	0.00248	.	.	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.00603	6.28;6.28	3.54	-2.51	0.06365	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.728791	0.12593	N	0.455429	T	0.00241	0.0007	.	.	.	0.09310	N	0.999998	B	0.06786	0.001	B	0.15052	0.012	T	0.40098	-0.9581	9	0.02654	T	1	.	2.1258	0.03738	0.4304:0.2973:0.1611:0.1113	.	165	B9A064	IGLL5_HUMAN	T	166;165	ENSP00000436353:K166T;ENSP00000431254:K165T	ENSP00000431254:K165T	K	+	2	0	IGLL5	21567723	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.399000	0.07250	-1.086000	0.03084	-5.509000	0.00000	AAA		0.602	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		8	382	0	0	0	1	0	8	382				
ZBED4	9889	broad.mit.edu	37	22	50279764	50279764	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:50279764C>T	ENST00000216268.5	+	2	2931	c.2454C>T	c.(2452-2454)aaC>aaT	p.N818N		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	818						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGACGCTGAACGAGGGGGAGC	0.622																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2452-2454)aaC>aaT		zinc finger, BED-type containing 4							38.0	38.0	38.0					22																	50279764		2203	4299	6502	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279764C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2454C>T	22.37:g.50279764C>T							p.N818N	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2931	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	818					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.2454C>T	CCDS33677.1																																																																																				0.622	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		8	178	0	0	0	1	0	8	178				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		13	175	0	0	0	1	0	13	175				
PFKP	5214	broad.mit.edu	37	10	3143180	3143180	+	Intron	SNP	G	G	A	rs571459367	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:3143180G>A	ENST00000381125.4	+	4	340				PFKP_ENST00000421751.1_Intron|PFKP_ENST00000381075.2_Silent_p.R76R	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GTCCTGGCCGGCATGCTCTGG	0.622																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(226-228)cgG>cgA		phosphofructokinase, platelet							115.0	106.0	109.0					10																	3143180		876	1991	2867	SO:0001627	intron_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3143180G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.265-377G>A	10.37:g.3143180G>A						PFKP_ENST00000381125.4_Intron	p.R76R	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	5	452	+			0					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.228G>A	CCDS7059.1																																																																																				0.622	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		5	594	0	0	0	1	0	5	594				
BAGE2	85319	broad.mit.edu	37	21	11039053	11039053	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11039053C>T	ENST00000470054.1	-	0	1150							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGAGTCCATCAATCCAGTAG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039053C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039053C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1150	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		47	1858	0	0	0	1	0	47	1858				
IL9R	3581	broad.mit.edu	37	X	155239804	155239804	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:155239804C>G	ENST00000244174.5	+	9	1475	c.1296C>G	c.(1294-1296)agC>agG	p.S432R	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.S411R	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	432	Poly-Ser.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					gcaggagcagcagcagcagca	0.627																																						ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(1231-1233)agC>agG		interleukin 9 receptor							17.0	27.0	24.0					X																	155239804		2201	4295	6496	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239804C>G	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1296C>G	X.37:g.155239804C>G	ENSP00000244174:p.Ser432Arg					IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.S432R|IL9R_ENST00000369423.2_3'UTR	p.S411R			Q01113	IL9R_HUMAN			10	1600	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		432					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.1233C>G	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	9.402	1.078258	0.20227	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10860	2.83;2.83	0.195	0.195	0.15151	.	3.852910	0.00870	N	0.002015	T	0.14356	0.0347	.	.	.	0.09310	N	1	P	0.42518	0.782	P	0.46110	0.504	T	0.20806	-1.0264	8	0.48119	T	0.1	-15.0951	.	.	.	.	432	Q01113	IL9R_HUMAN	R	432;411	ENSP00000244174:S432R;ENSP00000388918:S411R	ENSP00000244174:S432R	S	+	3	2	IL9R	154892998	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-0.363000	0.07593	0.283000	0.22279	0.287000	0.19450	AGC		0.627	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		4	79	0	0	0	1	0	4	79				
HCAR1	27198	broad.mit.edu	37	12	123213884	123213884	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:123213884C>A	ENST00000436083.2	-	1	1506	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	RP11-324E6.9_ENST00000602891.1_lincRNA|HCAR1_ENST00000432564.1_Missense_Mutation_p.D335Y|HCAR1_ENST00000356987.2_Missense_Mutation_p.D335Y			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	335					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CATTGCCCATCAGACTGGCTT	0.488																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(1003-1005)Gat>Tat		hydroxycarboxylic acid receptor 1							149.0	136.0	140.0					12																	123213884		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123213884C>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.1003G>T	12.37:g.123213884C>A	ENSP00000409980:p.Asp335Tyr					HCAR1_ENST00000356987.2_Missense_Mutation_p.D335Y|HCAR1_ENST00000436083.2_Missense_Mutation_p.D335Y	p.D335Y	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	1245	-			335					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.1003G>T	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946361	0.34377	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.62105	0.05;0.05;0.05	5.56	2.72	0.32119	.	0.822850	0.10420	N	0.676826	T	0.46112	0.1376	L	0.36672	1.1	0.09310	N	1	P	0.37015	0.578	B	0.30782	0.12	T	0.37572	-0.9700	10	0.56958	D	0.05	-8.308	5.2508	0.15521	0.0:0.6518:0.1692:0.179	.	335	Q9BXC0	HCAR1_HUMAN	Y	335	ENSP00000349478:D335Y;ENSP00000389255:D335Y;ENSP00000409980:D335Y	ENSP00000349478:D335Y	D	-	1	0	HCAR1	121779837	0.000000	0.05858	0.001000	0.08648	0.139000	0.21198	-0.083000	0.11286	0.689000	0.31550	0.655000	0.94253	GAT		0.488	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			25	416	1	0	1.96895e-08	1	2.08173e-08	25	416				
XYLT1	64131	broad.mit.edu	37	16	17353277	17353277	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:17353277C>G	ENST00000261381.6	-	3	565	c.481G>C	c.(481-483)Gag>Cag	p.E161Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	161					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCGACATTCTCAAAGTCTTTG	0.502																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(481-483)Gag>Cag		xylosyltransferase I							138.0	126.0	130.0					16																	17353277		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353277C>G	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.481G>C	16.37:g.17353277C>G	ENSP00000261381:p.Glu161Gln						p.E161Q	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			3	565	-			161					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.481G>C	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171543	0.94807	.	.	ENSG00000103489	ENST00000261381	T	0.07688	3.17	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	L	0.59436	1.845	0.80722	D	1	D	0.62365	0.991	P	0.60236	0.871	T	0.00045	-1.2218	10	0.66056	D	0.02	-38.7384	18.8353	0.92159	0.0:1.0:0.0:0.0	.	161	Q86Y38	XYLT1_HUMAN	Q	161	ENSP00000261381:E161Q	ENSP00000261381:E161Q	E	-	1	0	XYLT1	17260778	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.328000	0.79160	2.688000	0.91661	0.655000	0.94253	GAG		0.502	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		150	477	0	0	0	1	0	150	477				
C8B	732	broad.mit.edu	37	1	57411609	57411609	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:57411609G>A	ENST00000371237.4	-	7	1056	c.990C>T	c.(988-990)taC>taT	p.Y330Y	C8B_ENST00000535057.1_Silent_p.Y268Y|C8B_ENST00000543257.1_Silent_p.Y278Y	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	330	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.Y330Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTATTCCCCGTAGCTGTACT	0.493																																						ENST00000543257.1																			1	Substitution - coding silent(1)	p.Y330Y(1)	endometrium(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(832-834)taC>taT		complement component 8, beta polypeptide							87.0	83.0	84.0					1																	57411609		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57411609G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.990C>T	1.37:g.57411609G>A						C8B_ENST00000371237.4_Silent_p.Y330Y|C8B_ENST00000535057.1_Silent_p.Y268Y	p.Y278Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			8	1400	-			330			MACPF.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.834C>T	CCDS30730.1																																																																																				0.493	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			5	434	0	0	0	1	0	5	434				
FOXP2	93986	broad.mit.edu	37	7	114269985	114269985	+	Silent	SNP	A	A	G	rs368614280		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:114269985A>G	ENST00000393494.2	+	5	801	c.522A>G	c.(520-522)caA>caG	p.Q174Q	FOXP2_ENST00000393500.3_Silent_p.Q99Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q			O15409	FOXP2_HUMAN	forkhead box P2	174	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q199Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacaacaacagcagcaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q199Q(1)	endometrium(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(295-297)caA>caG		forkhead box P2		G	,,,,,	0,4398		0,0,2199	39.0	36.0	37.0		522,597,522,597,522,573	-1.2	1.0	7		37	1,8583		0,1,4291	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FOXP2	NM_001172766.2,NM_001172767.2,NM_014491.3,NM_148898.3,NM_148899.3,NM_148900.3	,,,,,	0,1,6490	GG,GA,AA		0.0116,0.0,0.0077	,,,,,	174/715,199/458,174/716,199/741,174/433,191/733	114269985	1,12981	2199	4292	6491	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269985A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.522A>G	7.37:g.114269985A>G						FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000350908.4_Silent_p.Q174Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q199Q|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000393494.2_Silent_p.Q174Q	p.Q99Q			O15409	FOXP2_HUMAN			11	1117	+			174			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.297A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	280	0	0	0	1	0	6	280				
PCDH7	5099	broad.mit.edu	37	4	30724130	30724130	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:30724130G>C	ENST00000361762.2	+	1	2094	c.1086G>C	c.(1084-1086)gaG>gaC	p.E362D	PCDH7_ENST00000543491.1_Missense_Mutation_p.E362D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	362	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCTTGACGAGACGTCCGGCT	0.692																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1084-1086)gaG>gaC		protocadherin 7							27.0	31.0	30.0					4																	30724130		2186	4267	6453	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724130G>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1086G>C	4.37:g.30724130G>C	ENSP00000355243:p.Glu362Asp					PCDH7_ENST00000543491.1_Missense_Mutation_p.E362D	p.E362D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2094	+			362			Cadherin 3.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1086G>C	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.56|11.56	1.676129|1.676129	0.29783|0.29783	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.53640	.|0.61;0.61	5.69|5.69	2.56|2.56	0.30785|0.30785	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.51160|0.51160	0.1658|0.1658	L|L	0.48935|0.48935	1.535|1.535	0.45607|0.45607	D|D	0.998546|0.998546	.|P;P;P	.|0.45212	.|0.823;0.823;0.853	.|P;P;P	.|0.53102	.|0.595;0.595;0.718	T|T	0.43458|0.43458	-0.9390|-0.9390	5|9	.|0.35671	.|T	.|0.21	.|.	11.5739|11.5739	0.50850|0.50850	0.2318:0.0:0.7682:0.0|0.2318:0.0:0.7682:0.0	.|.	.|362;315;362	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	H|D	52|362;362;315	.|ENSP00000355243:E362D;ENSP00000441802:E362D	.|ENSP00000330302:E315D	D|E	+|+	1|3	0|2	PCDH7|PCDH7	30333228|30333228	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.003000|0.003000	0.03518|0.03518	3.394000|3.394000	0.52551|0.52551	0.742000|0.742000	0.32697|0.32697	-0.136000|-0.136000	0.14681|0.14681	GAC|GAG		0.692	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		7	324	0	0	0	1	0	7	324				
ECT2	1894	broad.mit.edu	37	3	172480552	172480552	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:172480552C>A	ENST00000392692.3	+	10	1137	c.961C>A	c.(961-963)Ctt>Att	p.L321I	ECT2_ENST00000232458.5_Missense_Mutation_p.L290I|ECT2_ENST00000417960.1_Missense_Mutation_p.L289I|ECT2_ENST00000441497.2_Missense_Mutation_p.L290I|ECT2_ENST00000427830.1_Missense_Mutation_p.L290I|ECT2_ENST00000540509.1_Missense_Mutation_p.L321I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	321	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AGTAAAAGATCTTCCCTTTGA	0.333																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(865-867)Ctt>Att		epithelial cell transforming sequence 2 oncogene							97.0	99.0	98.0					3																	172480552		2203	4299	6502	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172480552C>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.961C>A	3.37:g.172480552C>A	ENSP00000376457:p.Leu321Ile					ECT2_ENST00000540509.1_Missense_Mutation_p.L321I|ECT2_ENST00000392692.3_Missense_Mutation_p.L321I|ECT2_ENST00000232458.5_Missense_Mutation_p.L290I|ECT2_ENST00000441497.2_Missense_Mutation_p.L290I|ECT2_ENST00000427830.1_Missense_Mutation_p.L290I	p.L289I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		10	1342	+	Ovarian(172;0.00197)|Breast(254;0.158)		290			BRCT 2.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.865C>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769443	0.31320	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.84	3.99	0.46301	BRCT (2);	0.123450	0.53938	D	0.000041	T	0.71600	0.3359	L	0.43701	1.375	0.52099	D	0.999947	B;B;B;B	0.16166	0.0;0.016;0.008;0.001	B;B;B;B	0.19666	0.005;0.026;0.017;0.012	T	0.63184	-0.6694	10	0.31617	T	0.26	-13.9281	8.7265	0.34471	0.3898:0.5435:0.0:0.0666	.	321;321;290;289	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	I	290;321;290;289;290;321	ENSP00000232458:L290I;ENSP00000376457:L321I;ENSP00000401910:L290I;ENSP00000415876:L289I;ENSP00000412259:L290I;ENSP00000443160:L321I	ENSP00000232458:L290I	L	+	1	0	ECT2	173963246	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.884000	0.48562	0.744000	0.32741	-0.282000	0.10007	CTT		0.333	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		102	213	1	0	1.62402e-62	1	1.79412e-62	102	213				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			0							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			11	270	0	0	0	1	0	11	270				
DUS1L	64118	broad.mit.edu	37	17	80022901	80022901	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:80022901C>T	ENST00000354321.7	-	1	520	c.35G>A	c.(34-36)cGc>cAc	p.R12H	DUS1L_ENST00000306796.5_Missense_Mutation_p.R12H			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	12							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TCGCAGGGTGCGGCTCCAGAA	0.692																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(34-36)cGc>cAc		dihydrouridine synthase 1-like (S. cerevisiae)							18.0	21.0	20.0					17																	80022901		2196	4293	6489	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80022901C>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.35G>A	17.37:g.80022901C>T	ENSP00000346280:p.Arg12His					DUS1L_ENST00000306796.5_Missense_Mutation_p.R12H	p.R12H			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		1	520	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		12					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.35G>A	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686403	0.29962	.	.	ENSG00000169718	ENST00000354321;ENST00000306796	T;T	0.32753	1.44;1.44	4.72	-0.164	0.13359	.	0.728101	0.13462	N	0.386025	T	0.21103	0.0508	L	0.48642	1.525	0.19575	N	0.999961	B	0.09022	0.002	B	0.08055	0.003	T	0.19712	-1.0297	10	0.44086	T	0.13	-8.902	3.0021	0.06017	0.2046:0.2852:0.0:0.5102	.	12	Q6P1R4	DUS1L_HUMAN	H	12	ENSP00000346280:R12H;ENSP00000303515:R12H	ENSP00000303515:R12H	R	-	2	0	DUS1L	77616190	0.088000	0.21588	0.759000	0.31340	0.291000	0.27294	0.060000	0.14342	0.416000	0.25844	-0.812000	0.03155	CGC		0.692	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		4	203	0	0	0	1	0	4	203				
CD209	30835	broad.mit.edu	37	19	7812238	7812238	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:7812238C>T	ENST00000315599.7	-	2	82	c.60G>A	c.(58-60)ctG>ctA	p.L20L	CD209_ENST00000301357.8_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000394173.4_Silent_p.L20L|CD209_ENST00000394161.5_Silent_p.L20L|CD209_ENST00000354397.6_Silent_p.L20L|CD209_ENST00000593660.1_Silent_p.L20L|CD209_ENST00000315591.8_Silent_p.L20L|CD209_ENST00000601256.1_Silent_p.L20L|CD209_ENST00000204801.8_Intron|CD209_ENST00000601951.1_Silent_p.L20L|CD209_ENST00000602261.1_Silent_p.L20L	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	20					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAAGGCCTCTCAGCTGTTCCT	0.572																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(58-60)ctG>ctA		CD209 molecule							304.0	310.0	308.0					19																	7812238		2203	4300	6503	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7812238C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.60G>A	19.37:g.7812238C>T						CD209_ENST00000593821.1_Intron|CD209_ENST00000394161.5_Silent_p.L20L|CD209_ENST00000204801.8_Intron|CD209_ENST00000354397.6_Silent_p.L20L|CD209_ENST00000315591.8_Silent_p.L20L|CD209_ENST00000394173.4_Silent_p.L20L|CD209_ENST00000593660.1_Silent_p.L20L|CD209_ENST00000601256.1_Silent_p.L20L|CD209_ENST00000601951.1_Silent_p.L20L|CD209_ENST00000602261.1_Silent_p.L20L|CD209_ENST00000301357.8_Intron	p.L20L	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			2	82	-			20					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.60G>A	CCDS12186.1																																																																																				0.572	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		9	1326	0	0	0	1	0	9	1326				
ZNF606	80095	broad.mit.edu	37	19	58490523	58490523	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:58490523C>T	ENST00000341164.4	-	7	2145	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	ZNF606_ENST00000536132.1_Missense_Mutation_p.E419K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAAGGTTTCTCTCCTGTATGA	0.393																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1525-1527)Gag>Aag		zinc finger protein 606							49.0	48.0	48.0					19																	58490523		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490523C>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1525G>A	19.37:g.58490523C>T	ENSP00000343617:p.Glu509Lys					ZNF606_ENST00000536132.1_Missense_Mutation_p.E419K	p.E509K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2145	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	509					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1525G>A	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343802	0.61073	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.24350	1.86;1.86	4.41	4.41	0.53225	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000271	T	0.37265	0.0997	L	0.37630	1.12	0.53688	D	0.999973	D	0.60575	0.988	D	0.63793	0.918	T	0.13282	-1.0515	10	0.87932	D	0	.	12.7365	0.57228	0.0:0.833:0.167:0.0	.	509	Q8WXB4	ZN606_HUMAN	K	509;419	ENSP00000343617:E509K;ENSP00000445624:E419K	ENSP00000343617:E509K	E	-	1	0	ZNF606	63182335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.550000	0.60733	2.446000	0.82766	0.561000	0.74099	GAG		0.393	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		8	278	0	0	0	1	0	8	278				
SMURF2P1	107133516	broad.mit.edu	37	17	28935540	28935540	+	RNA	SNP	G	G	A	rs370997062		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:28935540G>A	ENST00000579301.1	+	0	391									SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1																		CGTTGTGTTCGTCTTTTTCCA	0.363																																						ENST00000578265.1																			0																																																			0							g.chr17:28935540G>A			17q11.2	2012-10-05			ENSG00000248121	ENSG00000248121			44402	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000132798		17.37:g.28935540G>A														0	193	+									RNA	SNP	ENST00000579301.1	37																																																																																						0.363	SMURF2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444254.1			6	190	0	0	0	1	0	6	190				
OR51B2	79345	broad.mit.edu	37	11	5344684	5344684	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:5344684G>A	ENST00000328813.2	-	1	898	c.844C>T	c.(844-846)Cct>Tct	p.P282S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTAAAGGAGGAAAGAGGAAG	0.373																																						ENST00000328813.2																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(844-846)Cct>Tct		olfactory receptor, family 51, subfamily B, member 2							115.0	107.0	110.0					11																	5344684		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344684G>A	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.844C>T	11.37:g.5344684G>A	ENSP00000327540:p.Pro282Ser					HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.P282S	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	898	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	282					Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.844C>T	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185866	0.78789	.	.	ENSG00000184881	ENST00000328813	T	0.35048	1.33	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	U	0.001743	T	0.66636	0.2809	M	0.90252	3.1	0.45118	D	0.998133	D	0.89917	1.0	D	0.79784	0.993	T	0.75720	-0.3219	10	0.87932	D	0	.	15.8595	0.79012	0.0:0.0:1.0:0.0	.	282	Q9Y5P1	O51B2_HUMAN	S	282	ENSP00000327540:P282S	ENSP00000327540:P282S	P	-	1	0	OR51B2	5301260	1.000000	0.71417	0.897000	0.35233	0.988000	0.76386	5.480000	0.66820	2.306000	0.77630	0.638000	0.83543	CCT		0.373	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		47	311	0	0	0	1	0	47	311				
FCGBP	8857	broad.mit.edu	37	19	40433869	40433869	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:40433869G>A	ENST00000221347.6	-	2	407	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	134	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGATGGGCCGCAGCAGTGTC	0.597																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(400-402)Cgg>Tgg		Fc fragment of IgG binding protein							64.0	54.0	57.0					19																	40433869		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433869G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.400C>T	19.37:g.40433869G>A	ENSP00000221347:p.Arg134Trp						p.R134W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	407	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		134			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.400C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442631	0.12164	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	4.13	-8.27	0.01017	.	0.899723	0.09194	N	0.835531	T	0.04137	0.0115	N	0.00926	-1.1	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.45991	-0.9223	10	0.37606	T	0.19	.	8.3971	0.32564	0.6469:0.0:0.1439:0.2092	.	134	Q9Y6R7	FCGBP_HUMAN	W	134	ENSP00000221347:R134W	ENSP00000221347:R134W	R	-	1	2	FCGBP	45125709	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.060000	0.11712	-1.660000	0.01486	0.655000	0.94253	CGG		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	339	0	0	0	1	0	5	339				
OR2M7	391196	broad.mit.edu	37	1	248487100	248487100	+	Silent	SNP	G	G	A	rs190559379	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:248487100G>A	ENST00000317965.2	-	1	799	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAATGCACATGAACAAACCTG	0.463																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(769-771)ttC>ttT		olfactory receptor, family 2, subfamily M, member 7							176.0	159.0	165.0					1																	248487100		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487100G>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.771C>T	1.37:g.248487100G>A							p.F257F	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	799	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		257					B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.771C>T	CCDS31111.1																																																																																				0.463	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		28	682	0	0	0	1	0	28	682				
SRRM2	23524	broad.mit.edu	37	16	2817341	2817341	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:2817341C>T	ENST00000301740.8	+	11	7361	c.6812C>T	c.(6811-6813)gCc>gTc	p.A2271V	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2271	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATGAACTTGGCCAGCCCCAGA	0.637																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(6811-6813)gCc>gTc		serine/arginine repetitive matrix 2							80.0	84.0	83.0					16																	2817341		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817341C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6812C>T	16.37:g.2817341C>T	ENSP00000301740:p.Ala2271Val						p.A2271V	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7361	+			2271			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6812C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784594	0.49997	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.76839	-1.05	5.77	5.77	0.91146	.	0.185465	0.38436	N	0.001695	T	0.70885	0.3275	L	0.32530	0.975	0.33865	D	0.634275	B	0.30793	0.295	B	0.32211	0.142	T	0.78934	-0.2008	10	0.87932	D	0	-3.7983	15.4828	0.75542	0.0:1.0:0.0:0.0	.	2271	Q9UQ35	SRRM2_HUMAN	V	2271;1523	ENSP00000301740:A2271V	ENSP00000301740:A2271V	A	+	2	0	SRRM2	2757342	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.305000	0.59110	2.728000	0.93425	0.655000	0.94253	GCC		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			7	1034	0	0	0	1	0	7	1034				
ASRGL1	80150	broad.mit.edu	37	11	62159721	62159721	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:62159721G>A	ENST00000415229.2	+	7	1107	c.892G>A	c.(892-894)Gat>Aat	p.D298N	ASRGL1_ENST00000301776.5_Missense_Mutation_p.D298N|CTD-2531D15.5_ENST00000526045.1_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	298					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CTTCGGAATTGATCCTGACGA	0.527											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(892-894)Gat>Aat		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						99.0	85.0	90.0					11																	62159721		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62159721G>A		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.892G>A	11.37:g.62159721G>A	ENSP00000400057:p.Asp298Asn		OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1059	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.D298N	p.D298N	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			7	1107	+			298					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.892G>A	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	G	7.665	0.685751	0.14973	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.94650	-3.48;-3.48	5.24	0.102	0.14522	.	0.502864	0.23382	N	0.048795	D	0.86781	0.6015	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.73733	-0.3890	10	0.31617	T	0.26	-12.1929	3.3361	0.07102	0.3163:0.0:0.3911:0.2926	.	298	Q7L266	ASGL1_HUMAN	N	298	ENSP00000400057:D298N;ENSP00000301776:D298N	ENSP00000301776:D298N	D	+	1	0	ASRGL1	61916297	0.065000	0.20965	0.001000	0.08648	0.066000	0.16364	0.483000	0.22292	0.210000	0.20664	0.655000	0.94253	GAT		0.527	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		72	330	0	0	0	1	0	72	330				
MAGEB4	4115	broad.mit.edu	37	X	30260943	30260943	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:30260943G>A	ENST00000378982.2	+	1	887	c.691G>A	c.(691-693)Gat>Aat	p.D231N	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	231	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GGGGATCTATGATGGAAAGAG	0.473																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(691-693)Gat>Aat		melanoma antigen family B, 4							76.0	72.0	74.0					X																	30260943		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260943G>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.691G>A	X.37:g.30260943G>A	ENSP00000368266:p.Asp231Asn						p.D231N	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	887	+			231			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.691G>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209960	0.39003	.	.	ENSG00000120289	ENST00000378982	T	0.05025	3.51	3.31	1.44	0.22558	.	0.365804	0.22917	U	0.054080	T	0.22282	0.0537	M	0.88181	2.935	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05632	-1.0873	10	0.48119	T	0.1	.	3.927	0.09269	0.1458:0.2453:0.609:0.0	.	231	O15481	MAGB4_HUMAN	N	231	ENSP00000368266:D231N	ENSP00000368266:D231N	D	+	1	0	MAGEB4	30170864	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.003000	0.12901	0.252000	0.21531	-0.192000	0.12808	GAT		0.473	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		12	438	0	0	0	1	0	12	438				
RGAG1	57529	broad.mit.edu	37	X	109697313	109697313	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:109697313A>G	ENST00000465301.2	+	3	3714	c.3468A>G	c.(3466-3468)gaA>gaG	p.E1156E	RGAG1_ENST00000540313.1_Silent_p.E1156E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1156										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGAGCAGGAAGCAGCCCGGG	0.512																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(3466-3468)gaA>gaG		retrotransposon gag domain containing 1							103.0	96.0	98.0					X																	109697313		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109697313A>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3468A>G	X.37:g.109697313A>G						RGAG1_ENST00000540313.1_Silent_p.E1156E	p.E1156E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	3714	+			1156					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.3468A>G	CCDS14552.1																																																																																				0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		47	388	0	0	0	1	0	47	388				
PAPD7	11044	broad.mit.edu	37	5	6748612	6748612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:6748612C>T	ENST00000230859.6	+	8	874	c.745C>T	c.(745-747)Cag>Tag	p.Q249*		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	479					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGCGCCATGCAGGTGAAGCA	0.542																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(745-747)Cag>Tag		PAP associated domain containing 7							317.0	289.0	298.0					5																	6748612		2203	4300	6503	SO:0001587	stop_gained	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6748612C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.745C>T	5.37:g.6748612C>T	ENSP00000230859:p.Gln249*						p.Q249*	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			8	874	+			249					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Nonsense_Mutation	SNP	ENST00000230859.6	37	c.745C>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	37	6.480735	0.97603	.	.	ENSG00000112941	ENST00000230859	.	.	.	5.43	4.56	0.56223	.	0.120483	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-10.7358	13.8039	0.63218	0.0:0.9267:0.0:0.0733	.	.	.	.	X	249	.	ENSP00000230859:Q249X	Q	+	1	0	PAPD7	6801612	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.483000	0.66838	1.286000	0.44565	0.561000	0.74099	CAG		0.542	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		8	1487	0	0	0	1	0	8	1487				
PDZD2	23037	broad.mit.edu	37	5	32088593	32088593	+	Missense_Mutation	SNP	C	C	T	rs200564667		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:32088593C>T	ENST00000438447.1	+	20	5427	c.5039C>T	c.(5038-5040)gCg>gTg	p.A1680V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1680V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1680					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAACTCATGCGGACATAAGC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21045	0.0		0.0	False		,,,				2504	0.001					ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5038-5040)gCg>gTg		PDZ domain containing 2		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	84.0	84.0	84.0		5039	-7.7	0.0	5		84	0,8600		0,0,4300	no	missense	PDZD2	NM_178140.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1680/2840	32088593	1,13005	2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088593C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5039C>T	5.37:g.32088593C>T	ENSP00000402033:p.Ala1680Val					PDZD2_ENST00000282493.3_Missense_Mutation_p.A1680V	p.A1680V			O15018	PDZD2_HUMAN			20	5427	+			1680					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.5039C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314406	0.23908	2.27E-4	0.0	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06068	3.35;3.35	5.16	-7.73	0.01245	.	1.746680	0.02740	N	0.116181	T	0.04363	0.0120	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41770	-0.9490	10	0.11485	T	0.65	.	1.9039	0.03273	0.1904:0.299:0.101:0.4097	.	1680	O15018	PDZD2_HUMAN	V	1680;1481;1680	ENSP00000402033:A1680V;ENSP00000282493:A1680V	ENSP00000282493:A1680V	A	+	2	0	PDZD2	32124350	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.537000	0.02206	-2.104000	0.00843	-2.244000	0.00286	GCG		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			5	733	0	0	0	1	0	5	733				
GRINA	2907	broad.mit.edu	37	8	145066090	145066090	+	Silent	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:145066090G>C	ENST00000313269.5	+	4	815	c.537G>C	c.(535-537)acG>acC	p.T179T	GRINA_ENST00000395068.4_Silent_p.T179T	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	179						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTGTCCACGGTGTCTGTGT	0.572																																						ENST00000313269.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(535-537)acG>acC		glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)							224.0	218.0	220.0					8																	145066090		2203	4300	6503	SO:0001819	synonymous_variant	2907					integral to membrane		g.chr8:145066090G>C	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.537G>C	8.37:g.145066090G>C						GRINA_ENST00000395068.4_Silent_p.T179T	p.T179T	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	815	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		179					B3KXM7|O43836|Q8IVW7	Silent	SNP	ENST00000313269.5	37	c.537G>C	CCDS34961.1	.	.	.	.	.	.	.	.	.	.	G	9.085	1.000167	0.19121	.	.	ENSG00000178719	ENST00000534791;ENST00000527194	.	.	.	4.7	-4.37	0.03633	.	.	.	.	.	T	0.38506	0.1043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36817	-0.9732	4	.	.	.	-16.3463	2.2111	0.03948	0.1049:0.2036:0.2433:0.4482	.	.	.	.	R	103;35	.	.	G	+	1	0	GRINA	145138078	0.001000	0.12720	0.911000	0.35937	0.983000	0.72400	-1.702000	0.01901	-0.701000	0.05063	0.650000	0.86243	GGT		0.572	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		194	690	0	0	0	1	0	194	690				
RANBP2	5903	broad.mit.edu	37	2	109367778	109367778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:109367778G>A	ENST00000283195.6	+	10	1458	c.1332G>A	c.(1330-1332)tgG>tgA	p.W444*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	444					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCTTACAGTGGAATTCATTGC	0.388																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1330-1332)tgG>tgA		RAN binding protein 2							27.0	31.0	30.0					2																	109367778		1439	2642	4081	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367778G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1332G>A	2.37:g.109367778G>A	ENSP00000283195:p.Trp444*						p.W444*	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1458	+			444					Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.1332G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	39	7.400347	0.98262	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6229	18.8314	0.92141	0.0:0.0:1.0:0.0	.	.	.	.	X	444	.	ENSP00000283195:W444X	W	+	3	0	RANBP2	108734210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.957000	0.93082	2.521000	0.84997	0.650000	0.86243	TGG		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		220	560	0	0	0	1	0	220	560				
ITPRIPL2	162073	broad.mit.edu	37	16	19126379	19126379	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:19126379T>A	ENST00000381440.3	+	1	1126	c.596T>A	c.(595-597)cTg>cAg	p.L199Q	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	199						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAGCCAGCGCTGGCCCCGGCC	0.701											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381440.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(595-597)cTg>cAg		inositol 1,4,5-trisphosphate receptor interacting protein-like 2							11.0	15.0	13.0					16																	19126379		2146	4212	6358	SO:0001583	missense	162073					integral to membrane		g.chr16:19126379T>A		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.596T>A	16.37:g.19126379T>A	ENSP00000370849:p.Leu199Gln		OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	730	CTD-2349B8.1_ENST00000564808.2_Intron	p.L199Q	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN			1	1126	+			199						Missense_Mutation	SNP	ENST00000381440.3	37	c.596T>A	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	T	8.250	0.808707	0.16467	.	.	ENSG00000205730	ENST00000381440	T	0.19250	2.16	4.91	3.81	0.43845	.	1.686950	0.05100	U	0.486938	T	0.25158	0.0611	N	0.19112	0.55	0.29438	N	0.859323	D	0.71674	0.998	P	0.61800	0.894	T	0.15292	-1.0442	10	0.11182	T	0.66	-8.1361	6.7379	0.23419	0.0:0.0837:0.1545:0.7618	.	199	Q3MIP1	IPIL2_HUMAN	Q	199	ENSP00000370849:L199Q	ENSP00000370849:L199Q	L	+	2	0	ITPRIPL2	19033880	0.524000	0.26282	0.167000	0.22817	0.046000	0.14306	1.512000	0.35812	1.829000	0.53265	0.533000	0.62120	CTG		0.701	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		9	230	0	0	0	1	0	9	230				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		9	282	0	0	0	1	0	9	282				
PCDH15	65217	broad.mit.edu	37	10	56128948	56128948	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:56128948C>A	ENST00000320301.6	-	5	800	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	PCDH15_ENST00000395440.1_Missense_Mutation_p.V136L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V141L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V136L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V136L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V114L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V114L|PCDH15_ENST00000395442.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373965.2_Missense_Mutation_p.V136L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V136L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V136L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V136L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	136	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCTCACCACTATTCGCACT	0.438										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(406-408)Gtg>Ttg		protocadherin-related 15							168.0	127.0	141.0					10																	56128948		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56128948C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.406G>T	10.37:g.56128948C>A	ENSP00000322604:p.Val136Leu	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.V114L|PCDH15_ENST00000320301.6_Missense_Mutation_p.V136L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V114L|PCDH15_ENST00000395442.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V136L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V136L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V136L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V136L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V141L|PCDH15_ENST00000395446.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395440.1_Missense_Mutation_p.V136L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V136L	p.V136L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			5	800	-		Melanoma(3;0.117)|Lung SC(717;0.238)	136			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.406G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386402	0.82902	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.5;0.55;0.5;0.48;0.5;0.78;0.68;0.4;0.42;0.47;0.41;0.42;0.42;0.48;0.56	5.52	5.52	0.82312	Cadherin (1);Cadherin conserved site (1);	.	.	.	.	T	0.60792	0.2296	N	0.20986	0.625	0.45118	D	0.998131	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.992;0.999;0.998;0.974;0.992;0.998;0.992;0.996;0.994;0.989;0.999;0.999;1.0;1.0;0.999	D;D;D;P;D;D;D;D;D;P;D;D;D;D;D	0.87578	0.989;0.954;0.928;0.809;0.992;0.928;0.989;0.992;0.928;0.874;0.954;0.954;0.998;0.995;0.97	T	0.57207	-0.7851	9	0.27785	T	0.31	.	19.0325	0.92963	0.0:1.0:0.0:0.0	.	114;136;136;141;136;136;136;136;136;136;136;141;136;114;136	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	136;141;136;136;136;136;136;136;136;136;114;114;136;136;141;136;136	ENSP00000363076:V136L;ENSP00000410304:V141L;ENSP00000378826:V136L;ENSP00000378832:V136L;ENSP00000378833:V136L;ENSP00000378829:V136L;ENSP00000378827:V136L;ENSP00000378820:V136L;ENSP00000354950:V136L;ENSP00000378821:V114L;ENSP00000363068:V114L;ENSP00000322604:V136L;ENSP00000378818:V136L;ENSP00000412628:V136L;ENSP00000363066:V136L	ENSP00000322604:V136L	V	-	1	0	PCDH15	55798954	1.000000	0.71417	0.960000	0.40013	0.977000	0.68977	4.754000	0.62191	2.590000	0.87494	0.585000	0.79938	GTG		0.438	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		79	193	1	0	6.11987e-43	1	6.7273e-43	79	193				
THY1	7070	broad.mit.edu	37	11	119290857	119290857	+	Missense_Mutation	SNP	C	C	T	rs142564004		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:119290857C>T	ENST00000284240.5	-	3	1316	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|RP11-334E6.12_ENST00000578216.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.A93T|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.A76T|THY1_ENST00000527590.1_5'UTR	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	93	Ig-like V-type.				angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CTAGTGAAGGCGGATAAGTAG	0.562																																						ENST00000284240.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(277-279)Gcc>Acc		Thy-1 cell surface antigen		C	THR/ALA	1,4397	2.1+/-5.4	0,1,2198	275.0	215.0	235.0		277	-3.7	0.0	11	dbSNP_134	235	1,8589	1.2+/-3.3	0,1,4294	no	missense	THY1	NM_006288.3	58	0,2,6492	TT,TC,CC		0.0116,0.0227,0.0154	benign	93/162	119290857	2,12986	2199	4295	6494	SO:0001583	missense	7070				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	g.chr11:119290857C>T	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.277G>A	11.37:g.119290857C>T	ENSP00000284240:p.Ala93Thr					THY1_ENST00000580275.1_Missense_Mutation_p.A76T|THY1_ENST00000528522.1_Missense_Mutation_p.A93T|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000527590.1_5'UTR	p.A93T	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)	3	1316	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	93			Ig-like V-type.		Q16008|Q9NSP1	Missense_Mutation	SNP	ENST00000284240.5	37	c.277G>A	CCDS8424.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945019	0.34283	2.27E-4	1.16E-4	ENSG00000154096	ENST00000284240;ENST00000528522;ENST00000524970;ENST00000524659	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.94	-3.71	0.04424	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.566810	0.03175	N	0.171259	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.25441	0.126	B	0.23275	0.045	T	0.28138	-1.0053	10	0.42905	T	0.14	-7.3332	7.1224	0.25453	0.1288:0.2015:0.0:0.6697	.	93	P04216	THY1_HUMAN	T	93	ENSP00000284240:A93T;ENSP00000431301:A93T;ENSP00000432808:A93T;ENSP00000435753:A93T	ENSP00000284240:A93T	A	-	1	0	THY1	118796067	0.000000	0.05858	0.028000	0.17463	0.953000	0.61014	-0.396000	0.07278	-0.677000	0.05231	0.591000	0.81541	GCC		0.562	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		17	490	0	0	0	1	0	17	490				
TACR3	6870	broad.mit.edu	37	4	104640521	104640521	+	Silent	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:104640521G>C	ENST00000304883.2	-	1	452	c.312C>G	c.(310-312)ctC>ctG	p.L104L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	104					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGATGACGATGAGATTTCCCA	0.592																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(310-312)ctC>ctG		tachykinin receptor 3							114.0	104.0	107.0					4																	104640521		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640521G>C	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.312C>G	4.37:g.104640521G>C							p.L104L	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	452	-		Hepatocellular(203;0.217)	104					Q0P510	Silent	SNP	ENST00000304883.2	37	c.312C>G	CCDS3664.1																																																																																				0.592	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		24	409	0	0	0	1	0	24	409				
ARHGAP32	9743	broad.mit.edu	37	11	128844270	128844270	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:128844270G>A	ENST00000310343.9	-	20	2779	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S578L|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S853L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S578L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	927					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGTGGTATTTGAGACTGTACC	0.438																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2779-2781)tCa>tTa		Rho GTPase activating protein 32							198.0	181.0	187.0					11																	128844270		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844270G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2780C>T	11.37:g.128844270G>A	ENSP00000310561:p.Ser927Leu					ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S853L|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S578L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S578L	p.S927L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2779	-			927					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2780C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	1.539	-0.542366	0.04053	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.81	5.81	0.92471	.	0.685457	0.14496	N	0.316057	T	0.19005	0.0456	L	0.47716	1.5	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.09422	-1.0675	10	0.27082	T	0.32	.	9.239	0.37484	0.0747:0.0:0.7798:0.1455	.	861;927	Q86T64;A7KAX9	.;RHG32_HUMAN	L	927;578;853;861;578	ENSP00000310561:S927L;ENSP00000376425:S578L;ENSP00000432468:S853L;ENSP00000432862:S578L	ENSP00000310561:S927L	S	-	2	0	ARHGAP32	128349480	0.439000	0.25610	0.010000	0.14722	0.962000	0.63368	3.889000	0.56212	2.745000	0.94114	0.655000	0.94253	TCA		0.438	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		91	344	0	0	0	1	0	91	344				
SRSF4	6429	broad.mit.edu	37	1	29476660	29476660	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:29476660C>T	ENST00000373795.4	-	5	857	c.623G>A	c.(622-624)aGt>aAt	p.S208N	RP11-242O24.5_ENST00000450108.1_RNA|SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	208	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GCTGCTGCCACTTCGGCTTCT	0.478																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(622-624)aGt>aAt		serine/arginine-rich splicing factor 4							213.0	210.0	211.0					1																	29476660		2203	4300	6503	SO:0001583	missense	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29476660C>T	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.623G>A	1.37:g.29476660C>T	ENSP00000362900:p.Ser208Asn					SRSF4_ENST00000466448.1_Intron|SRSF4_ENST00000546138.1_Intron	p.S208N	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			5	857	-			208			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.623G>A	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514077	0.64522	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.46819	0.86	5.36	5.36	0.76844	.	0.132141	0.85682	N	0.000000	T	0.61060	0.2317	M	0.67397	2.05	0.80722	D	1	D	0.64830	0.994	P	0.55055	0.767	T	0.61705	-0.7008	10	0.48119	T	0.1	.	16.6233	0.84935	0.0:1.0:0.0:0.0	.	208	Q08170	SRSF4_HUMAN	N	208	ENSP00000362900:S208N	ENSP00000362900:S208N	S	-	2	0	SRSF4	29349247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.735000	0.74806	2.668000	0.90789	0.650000	0.86243	AGT		0.478	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		263	584	0	0	0	1	0	263	584				
ZNF646	9726	broad.mit.edu	37	16	31090857	31090857	+	Missense_Mutation	SNP	G	G	A	rs375913989		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:31090857G>A	ENST00000394979.2	+	1	3635	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1071H			O15015	ZN646_HUMAN	zinc finger protein 646	1071					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTGAACCACCGCAAGATCCAC	0.617																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3211-3213)cGc>cAc		zinc finger protein 646		G	HIS/ARG	0,4394		0,0,2197	138.0	144.0	142.0		3212	4.8	1.0	16		142	1,8599		0,1,4299	no	missense	ZNF646	NM_014699.3	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1071/1833	31090857	1,12993	2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090857G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3212G>A	16.37:g.31090857G>A	ENSP00000378429:p.Arg1071His					ZNF646_ENST00000300850.5_Missense_Mutation_p.R1071H	p.R1071H			O15015	ZN646_HUMAN			1	3635	+			1071					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.3212G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.004264	0.74932	0.0	1.16E-4	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.52057	0.68;0.68	5.75	4.78	0.61160	.	.	.	.	.	T	0.33147	0.0853	L	0.31065	0.9	0.33612	D	0.603727	D	0.56521	0.976	B	0.41813	0.367	T	0.51498	-0.8698	9	0.62326	D	0.03	-15.9326	5.5911	0.17301	0.1514:0.0:0.6807:0.1679	.	1071	O15015-2	.	H	1071	ENSP00000300850:R1071H;ENSP00000378429:R1071H	ENSP00000300850:R1071H	R	+	2	0	ZNF646	30998358	0.512000	0.26186	1.000000	0.80357	0.987000	0.75469	1.081000	0.30791	1.389000	0.46526	0.563000	0.77884	CGC		0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		8	1398	0	0	0	1	0	8	1398				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		19	420	0	0	0	1	0	19	420				
MARCH6	10299	broad.mit.edu	37	5	10426548	10426548	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:10426548G>A	ENST00000274140.5	+	24	2552	c.2420G>A	c.(2419-2421)cGt>cAt	p.R807H	MARCH6_ENST00000449913.2_Missense_Mutation_p.R759H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R702H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R505H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	807					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TATATTGTTCGTAAACTGGCA	0.418																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2419-2421)cGt>cAt		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							431.0	367.0	389.0					5																	10426548		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10426548G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2420G>A	5.37:g.10426548G>A	ENSP00000274140:p.Arg807His					MARCH6_ENST00000503788.1_Missense_Mutation_p.R702H|MARCH6_ENST00000449913.2_Missense_Mutation_p.R759H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R505H	p.R807H	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			24	2552	+			807					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2420G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560354	0.45590	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.53857	1.63;0.61;1.63;0.6	5.63	3.85	0.44370	.	0.049904	0.85682	D	0.000000	T	0.48750	0.1517	M	0.61703	1.905	0.58432	D	0.999999	B;B;B;B	0.14012	0.006;0.003;0.003;0.009	B;B;B;B	0.11329	0.006;0.002;0.003;0.003	T	0.43782	-0.9370	10	0.42905	T	0.14	-13.3496	11.15	0.48453	0.0662:0.0:0.8052:0.1285	.	702;759;387;807	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	H	759;702;807;505	ENSP00000414643:R759H;ENSP00000425930:R702H;ENSP00000274140:R807H;ENSP00000424512:R505H	ENSP00000274140:R807H	R	+	2	0	MARCH6	10479548	0.998000	0.40836	0.504000	0.27639	0.951000	0.60555	3.730000	0.55006	0.849000	0.35215	0.655000	0.94253	CGT		0.418	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		8	1132	0	0	0	1	0	8	1132				
TMOD1	7111	broad.mit.edu	37	9	100315607	100315607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:100315607G>T	ENST00000259365.4	+	4	535	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	TMOD1_ENST00000395211.2_Nonsense_Mutation_p.E108*|TMOD1_ENST00000375175.1_5'Flank	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	108	Tropomyosin-binding. {ECO:0000255}.				adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCCTGTGCTGGAAAGTGTGAC	0.547																																						ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.(322-324)Gaa>Taa		tropomodulin 1							123.0	109.0	114.0					9																	100315607		2203	4300	6503	SO:0001587	stop_gained	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100315607G>T		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.322G>T	9.37:g.100315607G>T	ENSP00000259365:p.Glu108*					TMOD1_ENST00000259365.3_Nonsense_Mutation_p.E108*	p.E108*	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	4	458	+		Acute lymphoblastic leukemia(62;0.154)	108			Tropomyosin-binding (Potential).		B2RB77|Q5T7W3|Q9BUF1	Nonsense_Mutation	SNP	ENST00000259365.4	37	c.322G>T	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	38	6.812661	0.97857	.	.	ENSG00000136842	ENST00000395211;ENST00000259365	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.9265	18.6707	0.91510	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000259365:E108X	E	+	1	0	TMOD1	99355428	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	9.682000	0.98655	2.582000	0.87167	0.655000	0.94253	GAA		0.547	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		6	350	1	0	0.00116845	1	0.00118178	6	350				
ERVW-1	30816	broad.mit.edu	37	7	92099637	92099637	+	Missense_Mutation	SNP	G	G	A	rs201748970		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:92099637G>A	ENST00000493463.2	-	1	982	c.59C>T	c.(58-60)aCt>aTt	p.T20I	ERVW-1_ENST00000604270.1_Intron|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.T20I	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	20					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						agggggtgcagtgagagtgaa	0.453																																						ENST00000493463.2																			0				endometrium(1)|large_intestine(1)|lung(15)	17						c.(58-60)aCt>aTt									43.0	50.0	48.0					7																	92099637		2202	4298	6500	SO:0001583	missense	0				syncytium formation	integral to membrane|plasma membrane|virion		g.chr7:92099637G>A	AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.59C>T	7.37:g.92099637G>A	ENSP00000419945:p.Thr20Ile					ERVW-1_ENST00000603053.1_Missense_Mutation_p.T20I|ERVW-1_ENST00000604270.1_Intron|AC007566.10_ENST00000427458.1_RNA	p.T20I	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN			1	982	-			20					B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Missense_Mutation	SNP	ENST00000493463.2	37	c.59C>T	CCDS5626.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964776	0.34659	.	.	ENSG00000242950	ENST00000493463	T	0.18810	2.19	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.40308	-0.9570	6	0.14252	T	0.57	.	.	.	.	.	.	.	.	I	20	ENSP00000419945:T20I	ENSP00000419945:T20I	T	-	2	0	ERVW-1	91937573	0.738000	0.28186	0.450000	0.26969	0.453000	0.32348	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	ACT		0.453	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254009.2	NM_014590		6	467	0	0	0	1	0	6	467				
MICALCL	84953	broad.mit.edu	37	11	12316361	12316361	+	Silent	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:12316361T>C	ENST00000256186.2	+	3	1674	c.1383T>C	c.(1381-1383)ccT>ccC	p.P461P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	461	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ctcctcctcctcctcctcctc	0.582																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1381-1383)ccT>ccC		MICAL C-terminal like							10.0	11.0	10.0					11																	12316361		1932	4055	5987	SO:0001819	synonymous_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316361T>C	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1383T>C	11.37:g.12316361T>C							p.P461P	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1674	+			461			Poly-Pro.		Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	c.1383T>C	CCDS41620.1																																																																																				0.582	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		6	92	0	0	0	1	0	6	92				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		11	217	0	0	0	1	0	11	217				
HERC2P2	400322	broad.mit.edu	37	15	23316050	23316050	+	RNA	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:23316050G>A	ENST00000560464.1	-	0	2889									hect domain and RLD 2 pseudogene 2																		GCAGCAGTCCGCATAAAGTCT	0.512																																						ENST00000560464.1																			0																																																			0							g.chr15:23316050G>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23316050G>A														0	2889	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.512	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			5	606	0	0	0	1	0	5	606				
ZFYVE26	23503	broad.mit.edu	37	14	68275942	68275942	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:68275942C>G	ENST00000347230.4	-	4	476	c.338G>C	c.(337-339)gGt>gCt	p.G113A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G113A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	113					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGAATGTCACCTTGGAGGTC	0.458																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(337-339)gGt>gCt		zinc finger, FYVE domain containing 26							120.0	116.0	117.0					14																	68275942		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68275942C>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.338G>C	14.37:g.68275942C>G	ENSP00000251119:p.Gly113Ala					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G113A	p.G113A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	4	476	-			113					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.338G>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036094	0.19590	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26373	1.89;1.74	6.06	1.78	0.24846	.	0.933364	0.09213	N	0.832992	T	0.17831	0.0428	L	0.44542	1.39	0.09310	N	1	B;B;B	0.27068	0.065;0.167;0.022	B;B;B	0.24269	0.036;0.052;0.006	T	0.34279	-0.9835	10	0.09084	T	0.74	-5.0E-4	6.2815	0.21009	0.0:0.5186:0.0:0.4814	.	113;113;113	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	A	113	ENSP00000251119:G113A;ENSP00000450603:G113A	ENSP00000251119:G113A	G	-	2	0	ZFYVE26	67345695	0.064000	0.20934	0.854000	0.33618	0.991000	0.79684	1.535000	0.36061	0.457000	0.26962	0.655000	0.94253	GGT		0.458	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		13	406	0	0	0	1	0	13	406				
HADH	3033	broad.mit.edu	37	4	108940775	108940775	+	Missense_Mutation	SNP	G	G	A	rs370306695		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:108940775G>A	ENST00000309522.3	+	4	648	c.499G>A	c.(499-501)Gct>Act	p.A167T	HADH_ENST00000454409.2_Missense_Mutation_p.A171T|HADH_ENST00000403312.1_Missense_Mutation_p.A226T|HADH_ENST00000505878.1_Missense_Mutation_p.A171T|HADH_ENST00000603302.1_Missense_Mutation_p.A167T	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	495					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		AGACCGATTCGCTGGCCTCCA	0.498																																						ENST00000505878.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(511-513)Gct>Act		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						165.0	153.0	157.0					4																	108940775		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108940775G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.499G>A	4.37:g.108940775G>A	ENSP00000312288:p.Ala167Thr					HADH_ENST00000603302.1_Missense_Mutation_p.A167T|HADH_ENST00000454409.2_Missense_Mutation_p.A171T|HADH_ENST00000403312.1_Missense_Mutation_p.A226T|HADH_ENST00000309522.3_Missense_Mutation_p.A167T	p.A171T			Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	5	784	+		Hepatocellular(203;0.217)	167					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.511G>A	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731123	0.89390	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	T;T;T	0.76968	-1.06;-1.06;-1.06	5.37	4.53	0.55603	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.153383	0.56097	D	0.000023	D	0.84370	0.5457	M	0.84846	2.72	0.38132	D	0.938196	P;D;P	0.56035	0.941;0.974;0.953	B;P;P	0.50708	0.419;0.648;0.555	D	0.87171	0.2221	10	0.42905	T	0.14	-16.0779	15.4449	0.75223	0.0:0.0:0.8599:0.1401	.	226;171;167	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	T	167;167;171;171	ENSP00000312288:A167T;ENSP00000425952:A171T;ENSP00000395167:A171T	ENSP00000312288:A167T	A	+	1	0	HADH	109160224	1.000000	0.71417	0.073000	0.20177	0.941000	0.58515	6.776000	0.75023	1.244000	0.43870	0.655000	0.94253	GCT		0.498	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		270	480	0	0	0	1	0	270	480				
LOC645752	645752	broad.mit.edu	37	15	78211512	78211512	+	lincRNA	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:78211512C>A	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							GTTCCTTGCTCAGGACACTCA	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211512C>A																													15.37:g.78211512C>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	766	1	0	3.07112e-06	1	3.17875e-06	7	766				
PTGS1	5742	broad.mit.edu	37	9	125140262	125140262	+	Missense_Mutation	SNP	G	G	A	rs200993905		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:125140262G>A	ENST00000362012.2	+	3	184	c.179G>A	c.(178-180)cGc>cAc	p.R60H	PTGS1_ENST00000223423.4_Missense_Mutation_p.R60H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R35H|PTGS1_ENST00000373698.5_5'UTR	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	60	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GACTGCACCCGCACGGGCTAT	0.602																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(178-180)cGc>cAc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						113.0	99.0	104.0					9																	125140262		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125140262G>A	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.179G>A	9.37:g.125140262G>A	ENSP00000354612:p.Arg60His					PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Missense_Mutation_p.R60H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R35H	p.R60H	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			3	184	+			60			EGF-like.		A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.179G>A	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061326	0.76187	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423	T;T;T	0.69306	-0.39;-0.39;-0.39	5.7	4.81	0.61882	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.049311	0.85682	N	0.000000	T	0.60689	0.2288	L	0.52905	1.665	0.80722	D	1	B;B;P	0.35527	0.241;0.339;0.507	B;B;B	0.32022	0.066;0.036;0.139	T	0.63409	-0.6644	10	0.54805	T	0.06	-21.2899	13.4388	0.61101	0.0746:0.0:0.9254:0.0	.	35;60;60	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	H	35;60;60	ENSP00000437709:R35H;ENSP00000354612:R60H;ENSP00000223423:R60H	ENSP00000223423:R60H	R	+	2	0	PTGS1	124180083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.799000	0.69101	1.413000	0.46997	0.655000	0.94253	CGC		0.602	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			5	327	0	0	0	1	0	5	327				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11058340A>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058340A>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		36	577	0	0	0	1	0	36	577				
ITIH5	80760	broad.mit.edu	37	10	7618801	7618801	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:7618801G>A	ENST00000256861.6	-	10	1671	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	ITIH5_ENST00000397146.2_Silent_p.T531T|ITIH5_ENST00000397145.2_Silent_p.T531T|ITIH5_ENST00000446830.2_Silent_p.T313T|ITIH5_ENST00000298441.6_Silent_p.T317T|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	531					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGTTGCTGGCGGTGACCTCCA	0.572																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1591-1593)acC>acT		inter-alpha-trypsin inhibitor heavy chain family, member 5							90.0	82.0	85.0					10																	7618801		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618801G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1593C>T	10.37:g.7618801G>A						ITIH5_ENST00000298441.6_Silent_p.T317T|ITIH5_ENST00000397145.2_Silent_p.T531T|ITIH5_ENST00000397146.2_Silent_p.T531T|ITIH5_ENST00000446830.2_Silent_p.T313T|ITIH5_ENST00000434980.1_5'UTR	p.T531T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1671	-			531					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.1593C>T																																																																																					0.572	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		5	445	0	0	0	1	0	5	445				
ZNF521	25925	broad.mit.edu	37	18	22804704	22804704	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:22804704G>T	ENST00000361524.3	-	4	3326	c.3178C>A	c.(3178-3180)Cac>Aac	p.H1060N	ZNF521_ENST00000584787.1_Missense_Mutation_p.H840N|ZNF521_ENST00000538137.2_Missense_Mutation_p.H1060N|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1060					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTTTGGACGTGCTGGCCCCGC	0.502			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3178-3180)Cac>Aac		zinc finger protein 521							75.0	61.0	65.0					18																	22804704		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804704G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3178C>A	18.37:g.22804704G>T	ENSP00000354794:p.His1060Asn					ZNF521_ENST00000538137.2_Missense_Mutation_p.H1060N|ZNF521_ENST00000584787.1_Missense_Mutation_p.H840N	p.H1060N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3326	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1060					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3178C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112986	0.20795	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.07800	3.18;3.16	5.98	5.98	0.97165	.	0.156557	0.56097	D	0.000023	T	0.05227	0.0139	N	0.08118	0	0.36885	D	0.889578	B	0.02656	0.0	B	0.04013	0.001	T	0.47573	-0.9107	10	0.20519	T	0.43	-31.416	15.2044	0.73165	0.0:0.0:0.8593:0.1407	.	1060	Q96K83	ZN521_HUMAN	N	1060;1094;1060	ENSP00000354794:H1060N;ENSP00000382352:H1060N	ENSP00000354794:H1060N	H	-	1	0	ZNF521	21058702	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.500000	0.81588	2.835000	0.97688	0.650000	0.86243	CAC		0.502	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		14	295	1	0	7.93312e-07	1	8.26911e-07	14	295				
PAPSS1	9061	broad.mit.edu	37	4	108641321	108641321	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:108641321C>T	ENST00000265174.4	-	1	287	c.15G>A	c.(13-15)ggG>ggA	p.G5G	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	5					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TGCACAGGCTCCCGGGGATCT	0.677																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(13-15)ggG>ggA		3'-phosphoadenosine 5'-phosphosulfate synthase 1							63.0	58.0	60.0					4																	108641321		2203	4300	6503	SO:0001819	synonymous_variant	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108641321C>T	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.15G>A	4.37:g.108641321C>T						PAPSS1_ENST00000511304.1_5'UTR	p.G5G	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	1	287	-		Hepatocellular(203;0.217)	5					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Silent	SNP	ENST00000265174.4	37	c.15G>A	CCDS3676.1																																																																																				0.677	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			115	320	0	0	0	1	0	115	320				
OTUD4	54726	broad.mit.edu	37	4	146073752	146073752	+	Silent	SNP	T	T	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:146073752T>A	ENST00000447906.2	-	11	1096	c.909A>T	c.(907-909)gcA>gcT	p.A303A	OTUD4_ENST00000455611.2_5'UTR|Y_RNA_ENST00000459374.1_RNA|OTUD4_ENST00000454497.2_Silent_p.A238A			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	303					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTTGAACATCTGCATTCAAAA	0.363																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(712-714)gcA>gcT		OTU domain containing 4							74.0	71.0	72.0					4																	146073752		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146073752T>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.909A>T	4.37:g.146073752T>A						OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Silent_p.A303A	p.A238A	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			11	851	-	all_hematologic(180;0.151)		302					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.714A>T																																																																																					0.363	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		48	189	0	0	0	1	0	48	189				
POM121L9P	29774	broad.mit.edu	37	22	24659805	24659805	+	RNA	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:24659805C>G	ENST00000414583.2	+	0	3330					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCTCCCTATCTGCGCACCCG	0.607																																						ENST00000414583.2																			0																																																			0							g.chr22:24659805C>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659805C>G								NR_003714.1						0	3330	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.607	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	37	0	0	0	1	0	6	37				
RNF26	79102	broad.mit.edu	37	11	119206987	119206987	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:119206987C>T	ENST00000311413.4	+	1	1751	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	C1QTNF5_ENST00000525657.1_5'Flank|RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	385						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TCTGCCAGGACCAGAGCAAGA	0.597																																						ENST00000311413.4																			0				cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12						c.(1153-1155)gaC>gaT		ring finger protein 26							105.0	88.0	94.0					11																	119206987		2199	4295	6494	SO:0001819	synonymous_variant	79102						zinc ion binding	g.chr11:119206987C>T	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1155C>T	11.37:g.119206987C>T						RP11-334E6.10_ENST00000501918.2_RNA	p.D385D	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	1751	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	385					Q542Y8	Silent	SNP	ENST00000311413.4	37	c.1155C>T	CCDS8419.1																																																																																				0.597	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		16	421	0	0	0	1	0	16	421				
VIT	5212	broad.mit.edu	37	2	36970392	36970392	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:36970392G>A	ENST00000389975.3	+	4	570	c.268G>A	c.(268-270)Gta>Ata	p.V90I	VIT_ENST00000497382.1_5'UTR|VIT_ENST00000457137.2_Missense_Mutation_p.V90I|VIT_ENST00000379241.3_Missense_Mutation_p.V90I|VIT_ENST00000404084.1_Missense_Mutation_p.V68I|VIT_ENST00000379242.3_Missense_Mutation_p.V90I|VIT_ENST00000401530.1_Missense_Mutation_p.V90I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	90	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGGCGCTGCCGTACACAGGTG	0.473																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(268-270)Gta>Ata		vitrin							91.0	80.0	84.0					2																	36970392		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36970392G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.268G>A	2.37:g.36970392G>A	ENSP00000374625:p.Val90Ile					VIT_ENST00000389975.3_Missense_Mutation_p.V90I|VIT_ENST00000457137.2_Missense_Mutation_p.V90I|VIT_ENST00000379241.3_Missense_Mutation_p.V90I|VIT_ENST00000401530.1_Missense_Mutation_p.V90I|VIT_ENST00000404084.1_Missense_Mutation_p.V68I|VIT_ENST00000497382.1_5'UTR	p.V90I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			4	570	+		all_hematologic(82;0.248)	90			LCCL.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.268G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.546624	0.00926	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.78	1.91	0.25777	LCCL (5);	0.243987	0.39407	N	0.001370	T	0.55641	0.1933	N	0.00690	-1.25	0.23478	N	0.997592	B;B;B;B;B;B	0.20052	0.027;0.005;0.041;0.005;0.007;0.012	B;B;B;B;B;B	0.16289	0.011;0.015;0.005;0.015;0.009;0.011	T	0.55817	-0.8081	10	0.06099	T	0.92	-8.7759	6.0137	0.19589	0.4398:0.0:0.5602:0.0	.	90;90;90;90;90;90	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	I	90;90;90;90;68;90;90	ENSP00000368544:V90I;ENSP00000374625:V90I;ENSP00000393561:V90I;ENSP00000384154:V68I;ENSP00000368543:V90I;ENSP00000385658:V90I	ENSP00000368543:V90I	V	+	1	0	VIT	36823896	0.991000	0.36638	0.027000	0.17364	0.009000	0.06853	2.641000	0.46587	0.528000	0.28580	0.655000	0.94253	GTA		0.473	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				5	328	0	0	0	1	0	5	328				
ZNF512B	57473	broad.mit.edu	37	20	62626750	62626750	+	Intron	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:62626750G>A	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.G229E			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGACGCCAGGACTGATGACA	0.522																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(685-687)gGa>gAa		pre-mRNA processing factor 6							121.0	97.0	105.0					20																	62626750		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62626750G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-27442C>T	20.37:g.62626750G>A						ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	p.G229E			O94906	PRP6_HUMAN			6	797	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		229					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.686G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754691	0.89843	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.78816	-1.19;-1.21	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.85575	0.5728	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.979;0.994	D	0.86768	0.1971	10	0.66056	D	0.02	.	18.533	0.90999	0.0:0.0:1.0:0.0	.	229;229	O94906-2;O94906	.;PRP6_HUMAN	E	229	ENSP00000266079:G229E;ENSP00000446216:G229E	ENSP00000266079:G229E	G	+	2	0	PRPF6	62097194	1.000000	0.71417	0.697000	0.30258	0.995000	0.86356	8.532000	0.90613	2.382000	0.81193	0.650000	0.86243	GGA		0.522	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		85	167	0	0	0	1	0	85	167				
SECISBP2L	9728	broad.mit.edu	37	15	49304939	49304939	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:49304939G>A	ENST00000559471.1	-	12	1900	c.1637C>T	c.(1636-1638)aCa>aTa	p.T546I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T501I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	546							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATTAAAGGATGTCAAACAGGG	0.348																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(1636-1638)aCa>aTa		SECIS binding protein 2-like							122.0	128.0	126.0					15																	49304939		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49304939G>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1637C>T	15.37:g.49304939G>A	ENSP00000453854:p.Thr546Ile					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T501I	p.T546I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			12	1900	-			546					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.1637C>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384582	0.42308	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.72394	-0.65	5.76	4.84	0.62591	.	0.433340	0.26248	N	0.025473	T	0.60405	0.2266	L	0.39147	1.195	0.30747	N	0.745561	B;B	0.20988	0.012;0.05	B;B	0.18561	0.006;0.022	T	0.62115	-0.6922	10	0.54805	T	0.06	.	9.5017	0.39022	0.0802:0.2533:0.6665:0.0	.	546;501	Q93073;Q93073-2	SBP2L_HUMAN;.	I	501;546	ENSP00000261847:T501I	ENSP00000261847:T501I	T	-	2	0	SECISBP2L	47092231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.936000	0.48971	1.433000	0.47394	0.650000	0.86243	ACA		0.348	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		19	513	0	0	0	1	0	19	513				
PROX1	5629	broad.mit.edu	37	1	214171209	214171209	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:214171209G>A	ENST00000366958.4	+	2	1939	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	PROX1_ENST00000261454.4_Missense_Mutation_p.R444H|PROX1_ENST00000435016.1_Missense_Mutation_p.R444H|PROX1_ENST00000498508.2_Missense_Mutation_p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	444					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTGGTTGTCCGCAAAAACTCC	0.627																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1330-1332)cGc>cAc		prospero homeobox 1							78.0	87.0	84.0					1																	214171209		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171209G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1331G>A	1.37:g.214171209G>A	ENSP00000355925:p.Arg444His					PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000261454.4_Missense_Mutation_p.R444H|PROX1_ENST00000435016.1_Missense_Mutation_p.R444H	p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1939	+			444					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1331G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889855	0.72524	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.55760	0.54;0.5;0.54;0.54	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73069	-0.4099	10	0.56958	D	0.05	-3.4891	19.6473	0.95784	0.0:0.0:1.0:0.0	.	444	Q92786	PROX1_HUMAN	H	16;444;444;444;444	ENSP00000420283:R444H;ENSP00000355925:R444H;ENSP00000400694:R444H;ENSP00000261454:R444H	ENSP00000261454:R444H	R	+	2	0	PROX1	212237832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.762000	0.74950	2.650000	0.89964	0.591000	0.81541	CGC		0.627	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		6	677	0	0	0	1	0	6	677				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		85	91	0	0	0	1	0	85	91				
TEX13B	56156	broad.mit.edu	37	X	107224541	107224541	+	Silent	SNP	G	G	A	rs41300888		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:107224541G>A	ENST00000302917.1	-	3	800	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	236								p.C236C(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCTCTGCCCCGCAAAGGTGTA	0.592													G|||	1	0.000264901	0.0	0.0	3775	,	,		13852	0.0		0.001	False		,,,				2504	0.0					ENST00000302917.1																			1	Substitution - coding silent(1)	p.C236C(1)	large_intestine(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(706-708)tgC>tgT		testis expressed 13B							140.0	128.0	132.0					X																	107224541		2198	4300	6498	SO:0001819	synonymous_variant	0							g.chrX:107224541G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.708C>T	X.37:g.107224541G>A							p.C236C	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			3	800	-			236					Q5JYF6	Silent	SNP	ENST00000302917.1	37	c.708C>T	CCDS14534.1																																																																																				0.592	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			6	946	0	0	0	1	0	6	946				
NEGR1	257194	broad.mit.edu	37	1	72400859	72400859	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:72400859C>G	ENST00000357731.5	-	2	551	c.312G>C	c.(310-312)caG>caC	p.Q104H	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.Q102H|NEGR1_ENST00000306821.3_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	104	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CATTCTGTATCTGGAGGCTGT	0.443																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(310-312)caG>caC		neuronal growth regulator 1							121.0	111.0	115.0					1																	72400859		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72400859C>G	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.312G>C	1.37:g.72400859C>G	ENSP00000350364:p.Gln104His					NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.Q102H|NEGR1_ENST00000306821.3_5'UTR	p.Q104H	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	2	551	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	104			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.312G>C	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725868	0.69074	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.27557	1.66;1.66	5.71	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055508	0.85682	D	0.000000	T	0.10723	0.0262	L	0.35644	1.08	0.58432	D	0.999997	B;B	0.21452	0.017;0.056	B;B	0.23018	0.026;0.043	T	0.06552	-1.0820	10	0.09590	T	0.72	-5.4874	14.4709	0.67517	0.0:0.9295:0.0:0.0705	.	102;104	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	H	104;102	ENSP00000350364:Q104H;ENSP00000413294:Q102H	ENSP00000350364:Q104H	Q	-	3	2	NEGR1	72173447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.217000	0.51184	1.423000	0.47198	0.655000	0.94253	CAG		0.443	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		11	333	0	0	0	1	0	11	333				
PTPRD	5789	broad.mit.edu	37	9	8341947	8341947	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:8341947C>T	ENST00000381196.4	-	37	5236	c.4693G>A	c.(4693-4695)Gtc>Atc	p.V1565I	PTPRD_ENST00000358503.5_Missense_Mutation_p.V1543I|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1155I|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1159I|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1552I|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1565I|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1158I|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1565I|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1155I|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1158I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1565	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V1565I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCATCTATGACGATGAAGCAA	0.358										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - Missense(1)	p.V1565I(1)	skin(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4693-4695)Gtc>Atc		protein tyrosine phosphatase, receptor type, D							67.0	67.0	67.0					9																	8341947		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8341947C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4693G>A	9.37:g.8341947C>T	ENSP00000370593:p.Val1565Ile	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.V1565I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1552I|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1155I|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1543I|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1158I|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1565I|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1155I|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1159I|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1158I	p.V1565I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	37	5236	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1565			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4693G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619525	0.46736	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	6.07	5.17	0.71159	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.92367	3.3	0.58432	D	0.999999	B;B;B;B;D;B;D;P;D	0.89917	0.137;0.137;0.137;0.137;0.979;0.113;1.0;0.918;1.0	B;B;B;B;P;B;D;B;D	0.74348	0.047;0.047;0.047;0.047;0.532;0.028;0.983;0.38;0.981	T	0.75895	-0.3156	9	.	.	.	.	16.7686	0.85531	0.1302:0.8698:0.0:0.0	.	1158;1149;1158;1159;1155;1155;1552;1565;1565	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	1565;1565;1552;1543;1159;1158;1155;1155;1036;1565;1158;1158	ENSP00000370593:V1565I;ENSP00000348812:V1565I;ENSP00000353187:V1552I;ENSP00000351293:V1543I;ENSP00000347373:V1159I;ENSP00000380741:V1158I;ENSP00000380735:V1155I;ENSP00000440515:V1155I;ENSP00000438164:V1565I;ENSP00000417093:V1158I;ENSP00000380731:V1158I	.	V	-	1	0	PTPRD	8331947	1.000000	0.71417	0.996000	0.52242	0.011000	0.07611	7.445000	0.80570	1.559000	0.49555	-0.181000	0.13052	GTC		0.358	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			10	267	0	0	0	1	0	10	267				
COL24A1	255631	broad.mit.edu	37	1	86313406	86313406	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:86313406G>T	ENST00000370571.2	-	39	3770	c.3404C>A	c.(3403-3405)cCt>cAt	p.P1135H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1135	Collagen-like 11.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCAGGAGGACCTCTGCT	0.428																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3403-3405)cCt>cAt		collagen, type XXIV, alpha 1							148.0	138.0	141.0					1																	86313406		1865	4091	5956	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86313406G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3404C>A	1.37:g.86313406G>T	ENSP00000359603:p.Pro1135His					COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	39	3770	-			1135			Collagen-like 11.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3404C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	4.161	0.028325	0.08054	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.98701	-5.08;-5.08	5.53	4.62	0.57501	.	0.000000	0.38058	N	0.001839	D	0.96898	0.8987	M	0.80982	2.52	0.22552	N	0.998991	B;B	0.25904	0.137;0.042	B;B	0.38683	0.279;0.007	D	0.95224	0.8336	10	0.48119	T	0.1	.	7.2398	0.26090	0.081:0.0:0.6546:0.2643	.	1135;1135	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	H	1135	ENSP00000359603:P1135H;ENSP00000392531:P1135H	ENSP00000359603:P1135H	P	-	2	0	COL24A1	86085994	0.874000	0.30092	0.978000	0.43139	0.377000	0.30045	3.233000	0.51311	1.343000	0.45638	-0.224000	0.12420	CCT		0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		185	377	1	0	7.88524e-70	1	8.7329e-70	185	377				
XRN1	54464	broad.mit.edu	37	3	142142485	142142485	+	Splice_Site	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:142142485C>T	ENST00000264951.4	-	6	745		c.e6-1		XRN1_ENST00000544157.1_Splice_Site|XRN1_ENST00000392981.2_Splice_Site|XRN1_ENST00000463916.1_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CAAGCATAATCTGTTGAAAAA	0.279																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.e6-1		5'-3' exoribonuclease 1							81.0	77.0	78.0					3																	142142485		2200	4300	6500	SO:0001630	splice_region_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142142485C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.628-1G>A	3.37:g.142142485C>T						XRN1_ENST00000544157.1_Splice_Site|XRN1_ENST00000463916.1_Splice_Site|XRN1_ENST00000392981.2_Splice_Site		NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			6	745	-								Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Splice_Site	SNP	ENST00000264951.4	37		CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363755	0.82353	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000477237	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4475	0.94854	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XRN1	143625175	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.568000	0.82369	2.609000	0.88269	0.460000	0.39030	.		0.279	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	Intron	54	215	0	0	0	1	0	54	215				
CDK5R2	8941	broad.mit.edu	37	2	219825179	219825179	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:219825179T>C	ENST00000302625.4	+	1	803	c.637T>C	c.(637-639)Ttc>Ctc	p.F213L	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	213					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGGCTGGTTCCGCGGTGT	0.672																																						ENST00000302625.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(637-639)Ttc>Ctc		cyclin-dependent kinase 5, regulatory subunit 2 (p39)							33.0	34.0	33.0					2																	219825179		2203	4300	6503	SO:0001583	missense	8941				regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity	g.chr2:219825179T>C	U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"""neuronal CDK5 activator isoform"""	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.637T>C	2.37:g.219825179T>C	ENSP00000304250:p.Phe213Leu					AC097468.7_ENST00000429343.1_RNA	p.F213L	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	803	+		Renal(207;0.0474)	213					Q4ZFW6	Missense_Mutation	SNP	ENST00000302625.4	37	c.637T>C	CCDS2427.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706450	0.30232	.	.	ENSG00000171450	ENST00000302625	T	0.68903	-0.36	4.22	4.22	0.49857	Cyclin-like (2);	0.000000	0.64402	U	0.000013	T	0.33876	0.0878	N	0.00972	-1.085	0.44000	D	0.996707	B	0.23185	0.081	B	0.28849	0.095	T	0.43845	-0.9366	10	0.02654	T	1	.	13.1246	0.59346	0.0:0.0:0.0:1.0	.	213	Q13319	CD5R2_HUMAN	L	213	ENSP00000304250:F213L	ENSP00000304250:F213L	F	+	1	0	CDK5R2	219533423	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.497000	0.45354	1.767000	0.52121	0.528000	0.53228	TTC		0.672	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1	NM_003936		4	260	0	0	0	1	0	4	260				
PALD1	27143	broad.mit.edu	37	10	72291202	72291202	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:72291202C>T	ENST00000263563.6	+	5	893	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	209						cytosol (GO:0005829)		p.R209W(1)									GCTGGCCATCCGGAAAGAGGT	0.617																																						ENST00000263563.6																			1	Substitution - Missense(1)	p.R209W(1)	lung(1)								c.(625-627)Cgg>Tgg		phosphatase domain containing, paladin 1							49.0	46.0	47.0					10																	72291202		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72291202C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.625C>T	10.37:g.72291202C>T	ENSP00000263563:p.Arg209Trp						p.R209W	NM_014431.2	NP_055246.2					5	893	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.625C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319113	0.81469	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.27720	1.65	5.08	5.08	0.68730	.	0.105715	0.64402	D	0.000006	T	0.59797	0.2220	M	0.80183	2.485	0.58432	D	0.999992	D	0.89917	1.0	D	0.74674	0.984	T	0.64516	-0.6389	10	0.87932	D	0	-27.6121	18.9672	0.92701	0.0:1.0:0.0:0.0	.	209	Q9ULE6	PALD_HUMAN	W	209	ENSP00000263563:R209W	ENSP00000263563:R209W	R	+	1	2	KIAA1274	71961208	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.832000	0.55783	2.736000	0.93811	0.655000	0.94253	CGG		0.617	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		6	242	0	0	0	1	0	6	242				
ERCC6L2	375748	broad.mit.edu	37	9	98678635	98678635	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:98678635A>G	ENST00000288985.7	+	6	1415	c.1110A>G	c.(1108-1110)agA>agG	p.R370R	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.R181R	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	370					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CCATGCAAAGACTTGCCAAAA	0.483																																						ENST00000288985.7																			0											c.(1108-1110)agA>agG		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							65.0	69.0	68.0					9																	98678635		2203	4300	6503	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98678635A>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1110A>G	9.37:g.98678635A>G						ERCC6L2_ENST00000437817.1_Silent_p.R181R|ERCC6L2_ENST00000466840.1_3'UTR	p.R370R	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			6	1415	+			370					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000288985.7	37	c.1110A>G	CCDS35072.1																																																																																				0.483	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		9	290	0	0	0	1	0	9	290				
SSX5	6758	broad.mit.edu	37	X	48051695	48051695	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:48051695G>A	ENST00000376923.1	-	4	302	c.303C>T	c.(301-303)ttC>ttT	p.F101F	SSX5_ENST00000311798.1_Silent_p.F142F|SSX5_ENST00000347757.1_Silent_p.F101F			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGAGCCTGCCGAAAGTCATCT	0.443																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(424-426)ttC>ttT		synovial sarcoma, X breakpoint 5							155.0	144.0	148.0					X																	48051695		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48051695G>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.303C>T	X.37:g.48051695G>A						SSX5_ENST00000347757.1_Silent_p.F101F|SSX5_ENST00000376923.1_Silent_p.F101F	p.F142F	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			6	478	-			101					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.426C>T	CCDS14289.1																																																																																				0.443	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		7	1051	0	0	0	1	0	7	1051				
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.T164T(2)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(490-492)acG>acT		POTE ankyrin domain family, member C							260.0	241.0	247.0					18																	14542654		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542654C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.492G>T	18.37:g.14542654C>A						POTEC_ENST00000389891.4_5'UTR	p.T164T	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	491	-			164						Silent	SNP	ENST00000358970.5	37	c.492G>T	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	816	1	0	3.59834e-05	1	3.69852e-05	6	816				
XPNPEP1	7511	broad.mit.edu	37	10	111635301	111635301	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:111635301G>A	ENST00000502935.1	-	15	1495	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.S345L|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.S416L|XPNPEP1_ENST00000322238.8_Intron					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTGAGCACCCGAGTCAATAAG	0.448																																						ENST00000369680.4																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1246-1248)tCg>tTg		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							123.0	100.0	108.0					10																	111635301		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111635301G>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1376C>T	10.37:g.111635301G>A	ENSP00000421566:p.Ser459Leu					XPNPEP1_ENST00000322238.8_Intron|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.S345L|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.S459L	p.S416L	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	15	1495	-		Breast(234;0.174)	416						Missense_Mutation	SNP	ENST00000502935.1	37	c.1247C>T	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	G	31	5.070360	0.93950	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000369680	T;T;T	0.74737	-0.87;-0.87;-0.87	5.43	5.43	0.79202	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90341	0.4359	10	0.87932	D	0	-11.0405	17.7889	0.88547	0.0:0.0:1.0:0.0	.	416	Q9NQW7	XPP1_HUMAN	L	459;345;416	ENSP00000421566:S459L;ENSP00000358697:S345L;ENSP00000358694:S416L	ENSP00000358694:S416L	S	-	2	0	XPNPEP1	111625291	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	9.101000	0.94219	2.698000	0.92095	0.655000	0.94253	TCG		0.448	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			11	255	0	0	0	1	0	11	255				
PARP1	142	broad.mit.edu	37	1	226558164	226558164	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:226558164C>T	ENST00000366794.5	-	15	2268	c.2125G>A	c.(2125-2127)Gca>Aca	p.A709T	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	709	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ATGGAGTATGCGGCCTGGATC	0.597								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2125-2127)Gca>Aca	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							169.0	149.0	156.0					1																	226558164		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226558164C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2125G>A	1.37:g.226558164C>T	ENSP00000355759:p.Ala709Thr					PARP1_ENST00000490921.1_5'UTR	p.A709T	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	15	2268	-	Breast(184;0.133)		709			PARP alpha-helical.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.2125G>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328090	0.95733	.	.	ENSG00000143799	ENST00000366794	T	0.58940	0.3	5.79	5.79	0.91817	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.000000	0.85682	D	0.000000	D	0.82912	0.5140	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86063	0.1533	10	0.72032	D	0.01	.	20.0413	0.97592	0.0:1.0:0.0:0.0	.	709	P09874	PARP1_HUMAN	T	709	ENSP00000355759:A709T	ENSP00000355759:A709T	A	-	1	0	PARP1	224624787	1.000000	0.71417	0.183000	0.23137	0.738000	0.42128	7.484000	0.81180	2.751000	0.94390	0.650000	0.86243	GCA		0.597	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		7	765	0	0	0	1	0	7	765				
CNTNAP4	85445	broad.mit.edu	37	16	76572111	76572111	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:76572111C>T	ENST00000476707.1	+	18	3242	c.3103C>T	c.(3103-3105)Cat>Tat	p.H1035Y	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H959Y|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.H1031Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H983Y			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1032					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCTTCATTTCATGGTGATAT	0.368																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(3091-3093)Cat>Tat		contactin associated protein-like 4							70.0	67.0	68.0					16																	76572111		1824	4094	5918	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76572111C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3103C>T	16.37:g.76572111C>T	ENSP00000417628:p.His1035Tyr					CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H1035Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H983Y|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H959Y	p.H1031Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			20	3476	+			1032					E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3091C>T		.	.	.	.	.	.	.	.	.	.	C	7.133	0.580282	0.13686	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.42821	D	0.000643	T	0.25195	0.0612	.	.	.	0.37798	D	0.927591	B;B;B	0.14805	0.001;0.001;0.011	B;B;B	0.15052	0.002;0.002;0.012	T	0.12630	-1.0540	9	0.09338	T	0.73	.	12.9629	0.58468	0.0:0.9168:0.0:0.0832	.	959;1035;1032	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	Y	1031;983;959;1035	ENSP00000306893:H1031Y;ENSP00000439733:H983Y;ENSP00000418741:H959Y;ENSP00000417628:H1035Y	ENSP00000306893:H1031Y	H	+	1	0	CNTNAP4	75129612	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.793000	0.47845	2.769000	0.95229	0.655000	0.94253	CAT		0.368	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		86	236	0	0	0	1	0	86	236				
ABCA13	154664	broad.mit.edu	37	7	48431547	48431547	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:48431547C>T	ENST00000435803.1	+	38	11708	c.11684C>T	c.(11683-11685)aCt>aTt	p.T3895I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3895	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCCTCCCACTTCTGGAACC	0.522																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11683-11685)aCt>aTt		ATP-binding cassette, sub-family A (ABC1), member 13							80.0	80.0	80.0					7																	48431547		1999	4164	6163	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48431547C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11684C>T	7.37:g.48431547C>T	ENSP00000411096:p.Thr3895Ile						p.T3895I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			38	11708	+			3895			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11684C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749632	0.49257	.	.	ENSG00000179869	ENST00000435803	D	0.94330	-3.4	4.95	4.03	0.46877	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.178832	0.26016	U	0.026841	D	0.97018	0.9026	M	0.92412	3.305	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.74674	0.968;0.984	D	0.97391	0.9989	10	0.87932	D	0	.	12.1583	0.54089	0.0:0.7004:0.2996:0.0	.	1597;3895	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	3895	ENSP00000411096:T3895I	ENSP00000411096:T3895I	T	+	2	0	ABCA13	48402093	0.183000	0.23186	0.451000	0.26982	0.445000	0.32107	1.741000	0.38238	2.296000	0.77279	0.467000	0.42956	ACT		0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	196	0	0	0	1	0	5	196				
KIAA1429	25962	broad.mit.edu	37	8	95538657	95538657	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:95538657C>T	ENST00000297591.5	-	8	1890	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	KIAA1429_ENST00000437199.1_Silent_p.V605V|KIAA1429_ENST00000421249.2_Silent_p.V605V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	605					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TAGAAGCTTCCACCTCATTTT	0.383																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1813-1815)gtG>gtA		KIAA1429							152.0	144.0	147.0					8																	95538657		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538657C>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1815G>A	8.37:g.95538657C>T						KIAA1429_ENST00000437199.1_Silent_p.V605V|KIAA1429_ENST00000421249.2_Silent_p.V605V	p.V605V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1890	-	Breast(36;3.29e-05)		605					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.1815G>A	CCDS34923.1																																																																																				0.383	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		38	700	0	0	0	1	0	38	700				
ADCY5	111	broad.mit.edu	37	3	123010065	123010065	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:123010065G>A	ENST00000462833.1	-	18	4434	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	ADCY5_ENST00000309879.5_Silent_p.F724F|ADCY5_ENST00000491190.1_Silent_p.F732F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1074	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.F1074L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGATGGAGGCGAACATGACCG	0.577																																						ENST00000462833.1																			1	Substitution - Missense(1)	p.F1074L(1)	lung(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3220-3222)ttC>ttT		adenylate cyclase 5							101.0	80.0	87.0					3																	123010065		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123010065G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3222C>T	3.37:g.123010065G>A						ADCY5_ENST00000491190.1_Silent_p.F732F|ADCY5_ENST00000309879.5_Silent_p.F724F	p.F1074F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	18	4434	-			1074			Guanylate cyclase 2.		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.3222C>T	CCDS3022.1																																																																																				0.577	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		81	330	0	0	0	1	0	81	330				
ADAMTS3	9508	broad.mit.edu	37	4	73205309	73205309	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:73205309C>T	ENST00000286657.4	-	5	799	c.763G>A	c.(763-765)Gat>Aat	p.D255N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	255					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATATTGTAATCGTTTTCTCCC	0.498																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(763-765)Gat>Aat		ADAM metallopeptidase with thrombospondin type 1 motif, 3							286.0	273.0	278.0					4																	73205309		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205309C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.763G>A	4.37:g.73205309C>T	ENSP00000286657:p.Asp255Asn						p.D255N	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	799	-			255					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.763G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109068	0.56398	.	.	ENSG00000156140	ENST00000286657	T	0.61274	0.12	5.31	5.31	0.75309	Metallopeptidase, catalytic domain (1);	0.059999	0.64402	D	0.000005	T	0.59128	0.2171	M	0.68593	2.085	0.80722	D	1	B	0.30542	0.284	B	0.28232	0.087	T	0.59836	-0.7379	10	0.48119	T	0.1	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	255	O15072	ATS3_HUMAN	N	255	ENSP00000286657:D255N	ENSP00000286657:D255N	D	-	1	0	ADAMTS3	73424173	0.998000	0.40836	0.992000	0.48379	0.181000	0.23173	3.879000	0.56138	2.763000	0.94921	0.563000	0.77884	GAT		0.498	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			31	1103	0	0	0	1	0	31	1103				
RNF123	63891	broad.mit.edu	37	3	49724172	49724172	+	5'Flank	SNP	C	C	T	rs41291698		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:49724172C>T	ENST00000327697.6	+	0	0				MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Nonsense_Mutation_p.W189*|RNF123_ENST00000432042.1_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Nonsense_Mutation_p.W264*	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.W250*(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TAGTGTAGCACCATGGCCGCT	0.642																																						ENST00000449682.2																			1	Substitution - Nonsense(1)	p.W250*(1)	endometrium(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(790-792)tgG>tgA		macrophage stimulating 1 (hepatocyte growth factor-like)							6.0	7.0	7.0					3																	49724172		2129	4208	6337	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724172C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724172C>T	Exception_encountered					MST1_ENST00000383728.3_Nonsense_Mutation_p.W189*|MST1_ENST00000545762.1_3'UTR	p.W264*	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	1153	-			250			Kringle 2.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Nonsense_Mutation	SNP	ENST00000327697.6	37	c.792G>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	39	7.839035	0.98519	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	.	.	.	5.75	5.75	0.90469	.	0.265808	0.20896	N	0.083726	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9522	0.97203	0.0:1.0:0.0:0.0	rs41291698	.	.	.	X	264;189	.	ENSP00000373234:W189X	W	-	3	0	MST1	49699176	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.550000	0.82173	2.725000	0.93324	0.655000	0.94253	TGG		0.642	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		4	91	0	0	0	1	0	4	91				
KIAA1456	57604	broad.mit.edu	37	8	12870280	12870280	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:12870280G>A	ENST00000524591.2	+	4	731	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	KIAA1456_ENST00000447063.2_Missense_Mutation_p.R81Q	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	81							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAGATTGCCCGGAATAGAGGA	0.483																																						ENST00000524591.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(241-243)cGg>cAg		KIAA1456							140.0	140.0	140.0					8																	12870280		1978	4167	6145	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12870280G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.242G>A	8.37:g.12870280G>A	ENSP00000432695:p.Arg81Gln					KIAA1456_ENST00000447063.2_Missense_Mutation_p.R81Q	p.R81Q	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			4	731	+			81					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.242G>A	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435344	0.83885	.	.	ENSG00000250305	ENST00000447063;ENST00000524591;ENST00000532376	T;T	0.50548	0.74;0.74	5.73	2.91	0.33838	Methyltransferase type 11 (1);	.	.	.	.	T	0.39545	0.1082	L	0.28054	0.825	0.80722	D	1	D;D	0.63046	0.992;0.982	P;P	0.50490	0.642;0.639	T	0.21449	-1.0245	9	0.56958	D	0.05	.	6.7573	0.23520	0.2527:0.1282:0.6191:0.0	.	81;81	E9PK20;Q9P272	.;K1456_HUMAN	Q	81	ENSP00000443288:R81Q;ENSP00000432695:R81Q	ENSP00000443288:R81Q	R	+	2	0	AC135352.2	12914651	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.535000	0.53575	0.880000	0.35969	0.655000	0.94253	CGG		0.483	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		5	379	0	0	0	1	0	5	379				
EFCAB1	79645	broad.mit.edu	37	8	49643125	49643125	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:49643125C>A	ENST00000262103.3	-	3	373	c.293G>T	c.(292-294)cGa>cTa	p.R98L	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Missense_Mutation_p.R46L|EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46L	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	98	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAAAGATCCTCGAAGAAACAG	0.343																																						ENST00000433756.1																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(136-138)cGa>cTa		EF-hand calcium binding domain 1							115.0	103.0	107.0					8																	49643125		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49643125C>A		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.293G>T	8.37:g.49643125C>A	ENSP00000262103:p.Arg98Leu					EFCAB1_ENST00000262103.3_Missense_Mutation_p.R98L|EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46L|EFCAB1_ENST00000521002.1_Intron	p.R46L	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN			2	296	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	98					B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.137G>T	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489315	0.84962	.	.	ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092	T;T;T	0.68025	-0.3;-0.29;-0.3	4.44	4.44	0.53790	EF-hand-like domain (1);	0.060216	0.64402	D	0.000002	D	0.84638	0.5516	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.962	D	0.88273	0.2931	10	0.87932	D	0	.	14.9317	0.70919	0.0:1.0:0.0:0.0	.	46;98	Q9HAE3-2;Q9HAE3	.;EFCB1_HUMAN	L	46;98;98;46	ENSP00000400873:R46L;ENSP00000262103:R98L;ENSP00000430765:R46L	ENSP00000262103:R98L	R	-	2	0	EFCAB1	49805678	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.789000	0.75110	2.441000	0.82636	0.563000	0.77884	CGA		0.343	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		21	137	1	0	7.45023e-12	1	7.95289e-12	21	137				
APEH	327	broad.mit.edu	37	3	49723304	49723304	+	IGR	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:49723304C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Silent_p.P413P	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1237-1239)ccG>ccA		macrophage stimulating 1 (hepatocyte growth factor-like)							56.0	53.0	54.0					3																	49723304		2194	4278	6472	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723304C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723304C>T						MST1_ENST00000383728.3_3'UTR	p.P413P	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1600	-			399			Kringle 4.		Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.1239G>A	CCDS2801.1																																																																																				0.682	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			6	887	0	0	0	1	0	6	887				
ZNF676	163223	broad.mit.edu	37	19	22362882	22362882	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:22362882G>A	ENST00000397121.2	-	3	1954	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTAAGGCTTGAGGATCTGCT	0.408																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1636-1638)tCa>tTa		zinc finger protein 676							63.0	66.0	65.0					19																	22362882		2127	4254	6381	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362882G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1637C>T	19.37:g.22362882G>A	ENSP00000380310:p.Ser546Leu						p.S546L	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1954	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	546					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1637C>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.847787	0.32606	.	.	ENSG00000196109	ENST00000397121	T	0.01705	4.68	0.819	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	M	0.74647	2.275	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28267	-1.0049	9	0.66056	D	0.02	.	8.4124	0.32651	0.0:0.0:1.0:0.0	.	546	Q8N7Q3	ZN676_HUMAN	L	546	ENSP00000380310:S546L	ENSP00000380310:S546L	S	-	2	0	ZNF676	22154722	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.500000	0.06405	0.191000	0.20236	0.194000	0.17425	TCA		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		6	478	0	0	0	1	0	6	478				
ANKRD42	338699	broad.mit.edu	37	11	82921451	82921451	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:82921451G>A	ENST00000393392.2	+	4	518	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	ANKRD42_ENST00000531895.1_Missense_Mutation_p.R147Q|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000393389.3_Missense_Mutation_p.R147Q|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R147Q|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R34Q|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R147Q	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	119					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATAATGCTCCGAAGTGGAGTG	0.408																																						ENST00000393389.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(439-441)cGa>cAa		ankyrin repeat domain 42							147.0	143.0	145.0					11																	82921451		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82921451G>A	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.356G>A	11.37:g.82921451G>A	ENSP00000377051:p.Arg119Gln					RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000393392.2_Missense_Mutation_p.R119Q|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R147Q|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R34Q|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R147Q	p.R147Q			Q8N9B4	ANR42_HUMAN			4	1372	+			119					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.440G>A	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806293	0.70682	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000528722;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;D;T;T;T;T;T	0.81996	-0.06;-1.56;-0.06;-0.06;-0.06;-0.06;-0.06	5.89	4.98	0.66077	Ankyrin repeat-containing domain (4);	0.112713	0.39615	N	0.001304	T	0.71298	0.3323	N	0.13272	0.32	0.36543	D	0.871416	P;P;P;P;D	0.53745	0.838;0.88;0.927;0.906;0.962	B;B;B;B;B	0.43103	0.319;0.213;0.36;0.408;0.319	T	0.75274	-0.3375	9	.	.	.	-0.8612	14.0266	0.64590	0.0734:0.0:0.9266:0.0	.	147;147;412;238;119	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	Q	466;147;34;147;147;147;119;147	ENSP00000377049:R147Q;ENSP00000432375:R34Q;ENSP00000260047:R147Q;ENSP00000433585:R147Q;ENSP00000434666:R147Q;ENSP00000377051:R119Q;ENSP00000435790:R147Q	.	R	+	2	0	ANKRD42	82599099	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	4.787000	0.62432	1.501000	0.48654	0.655000	0.94253	CGA		0.408	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		12	622	0	0	0	1	0	12	622				
SPDYA	245711	broad.mit.edu	37	2	29052132	29052132	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:29052132C>T	ENST00000334056.5	+	6	688	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	SPDYA_ENST00000379579.4_Missense_Mutation_p.L167F|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AAGGGACCAGCTCTGGGATAG	0.348																																						ENST00000334056.5																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(499-501)Ctc>Ttc		speedy/RINGO cell cycle regulator family member A							65.0	69.0	68.0					2																	29052132		2203	4300	6503	SO:0001583	missense	245711				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	g.chr2:29052132C>T	AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"""Speedy homologs"""	30613	protein-coding gene	gene with protein product		614029	"""speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)"""	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.499C>T	2.37:g.29052132C>T	ENSP00000335628:p.Leu167Phe					SPDYA_ENST00000379579.4_Missense_Mutation_p.L167F|SPDYA_ENST00000462832.1_3'UTR	p.L167F	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN			6	688	+	Acute lymphoblastic leukemia(172;0.155)		167			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000334056.5	37	c.499C>T	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978601	0.53720	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.35	5.35	0.76521	.	0.096409	0.43579	U	0.000554	T	0.62295	0.2416	N	0.25031	0.7	0.58432	D	0.999999	D;D	0.67145	0.996;0.995	P;P	0.61477	0.889;0.823	T	0.59852	-0.7376	9	0.32370	T	0.25	0.5219	19.4215	0.94723	0.0:1.0:0.0:0.0	.	167;167	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	F	167	.	ENSP00000335628:L167F	L	+	1	0	SPDYA	28905636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.309000	0.59135	2.664000	0.90586	0.563000	0.77884	CTC		0.348	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1	NM_182756		9	362	0	0	0	1	0	9	362				
ZNF827	152485	broad.mit.edu	37	4	146770591	146770591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:146770591G>A	ENST00000508784.1	-	6	2331	c.2104C>T	c.(2104-2106)Cga>Tga	p.R702*	ZNF827_ENST00000513320.1_Nonsense_Mutation_p.R352*|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.R702*			Q17R98	ZN827_HUMAN	zinc finger protein 827	702					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R702*(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTTTTCTCTCGCCCGATTAAA	0.502																																						ENST00000508784.1																			2	Substitution - Nonsense(2)	p.R702*(2)	large_intestine(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2104-2106)Cga>Tga		zinc finger protein 827							130.0	135.0	133.0					4																	146770591		2203	4300	6503	SO:0001587	stop_gained	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146770591G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2104C>T	4.37:g.146770591G>A	ENSP00000421863:p.Arg702*					ZNF827_ENST00000379448.4_Nonsense_Mutation_p.R702*|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Nonsense_Mutation_p.R352*	p.R702*			Q17R98	ZN827_HUMAN			6	2331	-	all_hematologic(180;0.151)		702					B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	ENST00000508784.1	37	c.2104C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.450699	0.98817	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	.	.	.	5.7	4.86	0.63082	.	0.167131	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-6.9996	14.7328	0.69393	0.0695:0.0:0.9305:0.0	.	.	.	.	X	702;352;702;701;352	.	ENSP00000281318:R701X	R	-	1	2	ZNF827	146990041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.524000	0.45589	1.410000	0.46936	0.655000	0.94253	CGA		0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		8	602	0	0	0	1	0	8	602				
NCOA6	23054	broad.mit.edu	37	20	33345759	33345759	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:33345759C>T	ENST00000374796.2	-	8	3362	c.792G>A	c.(790-792)caG>caA	p.Q264Q	NCOA6_ENST00000359003.2_Silent_p.Q264Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	264	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q264Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgctgctgctgct	0.532																																						ENST00000374796.2																			1	Substitution - coding silent(1)	p.Q264Q(1)	endometrium(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(790-792)caG>caA		nuclear receptor coactivator 6							60.0	52.0	55.0					20																	33345759		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345759C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.792G>A	20.37:g.33345759C>T						NCOA6_ENST00000359003.2_Silent_p.Q264Q	p.Q264Q			Q14686	NCOA6_HUMAN			8	3362	-			264			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.792G>A	CCDS13241.1																																																																																				0.532	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	396	0	0	0	1	0	6	396				
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																						ENST00000568624.1																			0																																																			0							g.chr15:28599954A>G																													15.37:g.28599954A>G														0	452	-									RNA	SNP	ENST00000568624.1	37																																																																																						0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			9	529	0	0	0	1	0	9	529				
ADAMTSL3	57188	broad.mit.edu	37	15	84652038	84652038	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:84652038C>T	ENST00000286744.5	+	21	3882	c.3658C>T	c.(3658-3660)Ccc>Tcc	p.P1220S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1220S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1220	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTTATTACCCCCAGTGAGGC	0.348																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(3658-3660)Ccc>Tcc		ADAMTS-like 3							119.0	127.0	125.0					15																	84652038		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84652038C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3658C>T	15.37:g.84652038C>T	ENSP00000286744:p.Pro1220Ser					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1220S	p.P1220S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3882	+			1220			Ig-like C2-type 2.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3658C>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.748472	0.00669	.	.	ENSG00000156218	ENST00000286744	T	0.11821	2.74	5.13	2.9	0.33743	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.674572	0.12270	N	0.483872	T	0.05960	0.0155	N	0.11651	0.15	0.09310	N	1	B;B	0.17268	0.004;0.021	B;B	0.16289	0.007;0.015	T	0.39078	-0.9631	10	0.06236	T	0.91	.	7.8817	0.29627	0.244:0.4028:0.3532:0.0	.	1220;1220	P82987-2;P82987	.;ATL3_HUMAN	S	1220	ENSP00000286744:P1220S	ENSP00000286744:P1220S	P	+	1	0	ADAMTSL3	82443042	0.003000	0.15002	0.046000	0.18839	0.277000	0.26821	1.060000	0.30530	1.245000	0.43885	0.557000	0.71058	CCC		0.348	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		21	779	0	0	0	1	0	21	779				
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	lincRNA	SNP	G	G	A	rs9730434	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:16959698G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657																																						ENST00000412962.1																			4	Substitution - coding silent(4)	p.H56H(4)	prostate(3)|endometrium(1)																																																0							g.chr1:16959698G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959698G>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.657	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		30	242	0	0	0	1	0	30	242				
DBT	1629	broad.mit.edu	37	1	100701025	100701025	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:100701025C>G	ENST00000370132.4	-	3	231	c.218G>C	c.(217-219)gGa>gCa	p.G73A	DBT_ENST00000370131.3_Missense_Mutation_p.G73A	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	73	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AATCCCTTCTCCAATGTCTGA	0.289																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(217-219)gGa>gCa		dihydrolipoamide branched chain transacylase E2							70.0	72.0	71.0					1																	100701025		2203	4298	6501	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100701025C>G	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.218G>C	1.37:g.100701025C>G	ENSP00000359151:p.Gly73Ala					DBT_ENST00000370131.3_Missense_Mutation_p.G73A	p.G73A	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	3	231	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	73			Lipoyl-binding.		B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.218G>C	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843596	0.91197	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.73681	-0.77;-0.77	5.62	5.62	0.85841	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	M	0.91818	3.245	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.90103	0.4186	10	0.87932	D	0	-22.3909	20.0205	0.97499	0.0:1.0:0.0:0.0	.	73	P11182	ODB2_HUMAN	A	73	ENSP00000359151:G73A;ENSP00000359150:G73A	ENSP00000359150:G73A	G	-	2	0	DBT	100473613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.982000	0.76173	2.801000	0.96364	0.650000	0.86243	GGA		0.289	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		73	328	0	0	0	1	0	73	328				
STK10	6793	broad.mit.edu	37	5	171510042	171510042	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:171510042G>A	ENST00000176763.5	-	11	2075	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	AC113342.1_ENST00000579783.1_RNA	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	578					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGGTTCCGATGCTCTTCT	0.478																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1732-1734)Cgg>Tgg		serine/threonine kinase 10							109.0	105.0	106.0					5																	171510042		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171510042G>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1732C>T	5.37:g.171510042G>A	ENSP00000176763:p.Arg578Trp						p.R578W	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		11	2075	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	578					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1732C>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048330	0.75846	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.74842	-0.88	5.22	3.33	0.38152	.	0.000000	0.85682	D	0.000000	D	0.85652	0.5746	M	0.83223	2.63	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.86032	0.1514	10	0.87932	D	0	.	11.8661	0.52495	0.0:0.0:0.6632:0.3368	.	578	O94804	STK10_HUMAN	W	578	ENSP00000176763:R578W	ENSP00000176763:R578W	R	-	1	2	STK10	171442647	0.982000	0.34865	0.983000	0.44433	0.980000	0.70556	1.712000	0.37940	0.507000	0.28148	0.655000	0.94253	CGG		0.478	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		21	417	0	0	0	1	0	21	417				
C10orf71	118461	broad.mit.edu	37	10	50531971	50531971	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:50531971G>C	ENST00000374144.3	+	3	1669	c.1381G>C	c.(1381-1383)Gac>Cac	p.D461H	C10orf71_ENST00000323868.4_Missense_Mutation_p.D461H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	461			D -> A (in dbSNP:rs45554335). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.							endometrium(1)	1						GGATTCAGCAGACAGCCAGCC	0.542																																						ENST00000374144.3																			0				endometrium(1)	1						c.(1381-1383)Gac>Cac		chromosome 10 open reading frame 71							50.0	53.0	52.0					10																	50531971		2082	4233	6315	SO:0001583	missense	118461							g.chr10:50531971G>C	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1381G>C	10.37:g.50531971G>C	ENSP00000363259:p.Asp461His					C10orf71_ENST00000323868.4_Missense_Mutation_p.D461H	p.D461H			Q711Q0	CJ071_HUMAN			3	1669	+			461		D -> A (in dbSNP:rs45554335).			A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1381G>C	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	1.808	-0.475281	0.04414	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.16897	2.31;3.44	5.3	0.937	0.19494	.	1.161450	0.06649	N	0.762440	T	0.18882	0.0453	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.34601	-0.9822	10	0.72032	D	0.01	.	6.9192	0.24378	0.2294:0.1223:0.6483:0.0	.	461	Q711Q0-3	.	H	461	ENSP00000318713:D461H;ENSP00000363259:D461H	ENSP00000318713:D461H	D	+	1	0	C10orf71	50201977	0.884000	0.30299	0.000000	0.03702	0.001000	0.01503	3.496000	0.53288	-0.096000	0.12329	0.650000	0.86243	GAC		0.542	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		77	235	0	0	0	1	0	77	235				
CD96	10225	broad.mit.edu	37	3	111286413	111286413	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:111286413G>C	ENST00000283285.5	+	3	593	c.462G>C	c.(460-462)gaG>gaC	p.E154D	CD96_ENST00000438817.2_Missense_Mutation_p.E154D|CD96_ENST00000352690.4_Missense_Mutation_p.E154D	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	154					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGAAATAGAGATAAATCAGA	0.368									Opitz Trigonocephaly syndrome																													ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(460-462)gaG>gaC		CD96 molecule							98.0	90.0	93.0					3																	111286413		2203	4300	6503	SO:0001583	missense	0	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111286413G>C	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.462G>C	3.37:g.111286413G>C	ENSP00000283285:p.Glu154Asp					CD96_ENST00000283285.5_Missense_Mutation_p.E154D|CD96_ENST00000438817.2_Missense_Mutation_p.E154D	p.E154D	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			3	702	+			154					Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.462G>C	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628223	0.28978	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.66099	1.65;-0.19;1.65	5.37	2.35	0.29111	Immunoglobulin subtype (1);	0.968819	0.08496	N	0.937108	T	0.42381	0.1200	L	0.27053	0.805	0.20563	N	0.999889	P;P;P;B	0.37781	0.608;0.557;0.608;0.421	B;B;B;B	0.34242	0.115;0.178;0.115;0.086	T	0.21895	-1.0232	10	0.19590	T	0.45	-0.5288	4.485	0.11785	0.2025:0.1855:0.6119:0.0	.	154;154;154;154	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	D	154	ENSP00000342040:E154D;ENSP00000283285:E154D;ENSP00000389801:E154D	ENSP00000283285:E154D	E	+	3	2	CD96	112769103	1.000000	0.71417	0.973000	0.42090	0.941000	0.58515	2.051000	0.41307	0.812000	0.34326	-0.157000	0.13467	GAG		0.368	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			13	252	0	0	0	1	0	13	252				
DACH1	1602	broad.mit.edu	37	13	72049296	72049296	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:72049296G>A	ENST00000359684.2	-	11	2221	c.2222C>T	c.(2221-2223)aCa>aTa	p.T741I	DACH1_ENST00000354591.4_Missense_Mutation_p.T487I|DACH1_ENST00000305425.4_Missense_Mutation_p.T689I|DACH1_ENST00000313174.7_Missense_Mutation_p.T541I			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	741					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCAGCATCTGTTCTGCCGCC	0.423																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(2065-2067)aCa>aTa		dachshund homolog 1 (Drosophila)							86.0	86.0	86.0					13																	72049296		1872	4111	5983	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72049296G>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2222C>T	13.37:g.72049296G>A	ENSP00000352712:p.Thr741Ile					DACH1_ENST00000359684.2_Missense_Mutation_p.T741I|DACH1_ENST00000313174.7_Missense_Mutation_p.T541I|DACH1_ENST00000354591.4_Missense_Mutation_p.T487I	p.T689I	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	10	2488	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	739			DACHbox-C.|Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.2066C>T		.	.	.	.	.	.	.	.	.	.	G	21.6	4.172072	0.78452	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.34072	1.41;1.42;1.42;1.38	5.62	5.62	0.85841	.	0.051334	0.85682	D	0.000000	T	0.57975	0.2090	M	0.62723	1.935	0.42123	D	0.991431	D;D;D	0.69078	0.977;0.997;0.978	P;D;P	0.66602	0.787;0.945;0.815	T	0.53968	-0.8363	10	0.40728	T	0.16	-6.4987	19.6611	0.95871	0.0:0.0:1.0:0.0	.	485;539;687	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	I	689;541;487;741;741	ENSP00000304994:T689I;ENSP00000318506:T541I;ENSP00000346604:T487I;ENSP00000352712:T741I	ENSP00000304994:T689I	T	-	2	0	DACH1	70947297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.643000	0.89663	0.655000	0.94253	ACA		0.423	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		80	240	0	0	0	1	0	80	240				
OR4Q3	441669	broad.mit.edu	37	14	20215850	20215850	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:20215850G>A	ENST00000331723.1	+	1	264	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTCCTACAGCAGGGCAAGA	0.453																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(262-264)caG>caA		olfactory receptor, family 4, subfamily Q, member 3							83.0	84.0	84.0					14																	20215850		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215850G>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.264G>A	14.37:g.20215850G>A							p.Q88Q	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	264	+	all_cancers(95;0.00108)		88					Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.264G>A	CCDS32020.1																																																																																				0.453	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			162	557	0	0	0	1	0	162	557				
KALRN	8997	broad.mit.edu	37	3	124103801	124103801	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:124103801G>A	ENST00000240874.3	+	11	2031	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	KALRN_ENST00000360013.3_Missense_Mutation_p.R625H|KALRN_ENST00000460856.1_Missense_Mutation_p.R625H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	625					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGGAGGTGCGCATCCAAGAC	0.572																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1873-1875)cGc>cAc		kalirin, RhoGEF kinase							104.0	86.0	92.0					3																	124103801		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124103801G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1874G>A	3.37:g.124103801G>A	ENSP00000240874:p.Arg625His					KALRN_ENST00000460856.1_Missense_Mutation_p.R625H|KALRN_ENST00000240874.3_Missense_Mutation_p.R625H	p.R625H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			11	2001	+			625					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1874G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.71|19.71	3.879057|3.879057	0.72294|0.72294	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	.|T;T;T;T	.|0.40476	.|1.03;1.03;1.03;1.05	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58323|0.58323	0.2114|0.2114	L|L	0.45422|0.45422	1.42|1.42	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.976;1.0;0.97	.|P;D;P	.|0.85130	.|0.818;0.997;0.723	T|T	0.52895|0.52895	-0.8514|-0.8514	5|10	.|0.37606	.|T	.|0.19	.|.	18.9768|18.9768	0.92740|0.92740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|625;625;625	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	T|H	603|625;625;625;101	.|ENSP00000418611:R625H;ENSP00000240874:R625H;ENSP00000353109:R625H;ENSP00000402950:R101H	.|ENSP00000240874:R625H	A|R	+|+	1|2	0|0	KALRN|KALRN	125586491|125586491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.597000|9.597000	0.98273|0.98273	2.700000|2.700000	0.92200|0.92200	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.572	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		5	456	0	0	0	1	0	5	456				
HDAC9	9734	broad.mit.edu	37	7	18788739	18788739	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:18788739C>A	ENST00000432645.2	+	13	2012	c.2012C>A	c.(2011-2013)aCt>aAt	p.T671N	HDAC9_ENST00000406451.4_Missense_Mutation_p.T671N|HDAC9_ENST00000401921.1_Missense_Mutation_p.T630N|HDAC9_ENST00000441542.2_Missense_Mutation_p.T674N	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	671	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGCAAGAAACTGGGCTGCTA	0.438																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2011-2013)aCt>aAt		histone deacetylase 9	Valproic Acid(DB00313)						80.0	78.0	79.0					7																	18788739		1911	4139	6050	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18788739C>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2012C>A	7.37:g.18788739C>A	ENSP00000410337:p.Thr671Asn					HDAC9_ENST00000432645.2_Missense_Mutation_p.T671N|HDAC9_ENST00000441542.2_Missense_Mutation_p.T674N|HDAC9_ENST00000401921.1_Missense_Mutation_p.T630N	p.T671N	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			14	2162	+	all_lung(11;0.187)		671			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2012C>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884382	0.51908	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.3	5.3	0.74995	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000010	T	0.70894	0.3276	M	0.65975	2.015	0.80722	D	1	B;P;P;P;P;P;P	0.43885	0.001;0.82;0.64;0.64;0.69;0.64;0.69	B;B;B;B;B;B;B	0.41666	0.01;0.328;0.248;0.248;0.363;0.248;0.279	T	0.74973	-0.3481	10	0.56958	D	0.05	-19.3258	15.5062	0.75743	0.0:0.8616:0.1384:0.0	.	671;583;630;674;671;671;649	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	N	671;630;671;674;583	ENSP00000384657:T671N;ENSP00000383912:T630N;ENSP00000410337:T671N;ENSP00000408617:T674N	ENSP00000339165:T583N	T	+	2	0	HDAC9	18755264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.797000	0.55514	2.756000	0.94617	0.563000	0.77884	ACT		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			34	100	1	0	1.62565e-12	1	1.74373e-12	34	100				
PRL	5617	broad.mit.edu	37	6	22290545	22290545	+	Missense_Mutation	SNP	C	C	T	rs139327343	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:22290545C>T	ENST00000306482.1	-	4	868	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	117					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					ATTCCAGGATCGCAATATGCT	0.423													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17704	0.0		0.0	False		,,,				2504	0.0					ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(349-351)cGa>cAa		prolactin		C	GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	116.0	109.0	112.0		350,350	4.1	0.9	6	dbSNP_134	112	0,8600		0,0,4300	yes	missense,missense	PRL	NM_000948.5,NM_001163558.2	43,43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign	117/228,117/228	22290545	3,13003	2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290545C>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.350G>A	6.37:g.22290545C>T	ENSP00000302150:p.Arg117Gln					RP3-404K8.2_ENST00000561912.1_RNA	p.R117Q	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			4	868	-	Ovarian(93;0.163)		117					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.350G>A	CCDS4548.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.55	1.972820	0.34848	6.81E-4	0.0	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.87650	-2.28	5.87	4.05	0.47172	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.376195	0.34088	N	0.004279	T	0.68311	0.2987	L	0.42245	1.32	0.38772	D	0.954562	B;P	0.42556	0.148;0.783	B;B	0.34873	0.023;0.191	T	0.66468	-0.5916	10	0.26408	T	0.33	1.517	10.4581	0.44563	0.135:0.7953:0.0:0.0697	.	117;118	P01236;Q5I0G2	PRL_HUMAN;.	Q	117;86	ENSP00000302150:R117Q	ENSP00000302150:R117Q	R	-	2	0	PRL	22398524	0.993000	0.37304	0.907000	0.35723	0.318000	0.28184	2.575000	0.46025	0.887000	0.36136	0.655000	0.94253	CGA		0.423	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		162	172	0	0	0	1	0	162	172				
SLC9A7	84679	broad.mit.edu	37	X	46521562	46521562	+	Silent	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:46521562C>G	ENST00000328306.4	-	7	955	c.930G>C	c.(928-930)ctG>ctC	p.L310L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	310					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CGTGAGTGTTCAGTCCCGCTG	0.408																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(928-930)ctG>ctC		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							58.0	48.0	51.0					X																	46521562		2203	4300	6503	SO:0001819	synonymous_variant	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46521562C>G	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.930G>C	X.37:g.46521562C>G							p.L310L	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			7	955	-			310					O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	37	c.930G>C	CCDS14269.1																																																																																				0.408	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		4	239	0	0	0	1	0	4	239				
CDC42	998	broad.mit.edu	37	1	22416480	22416480	+	Intron	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:22416480C>T	ENST00000344548.3	+	7	737				CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000400259.1_Intron|CDC42_ENST00000421089.2_Intron|CDC42_ENST00000315554.8_Silent_p.L177L	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42						actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TAGCTGCCCTCGAGCCTCCGG	0.473																																						ENST00000315554.8																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12						c.(529-531)ctC>ctT		cell division cycle 42							116.0	97.0	104.0					1																	22416480		2203	4300	6503	SO:0001627	intron_variant	998				actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22416480C>T	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.487-1441C>T	1.37:g.22416480C>T						CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000344548.3_Intron|CDC42_ENST00000400259.1_Intron|CDC42_ENST00000421089.2_Intron	p.L177L	NM_044472.2	NP_426359.1	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	6	635	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	177					P21181|P25763|Q7L8R5|Q9UDI2	Silent	SNP	ENST00000344548.3	37	c.531C>T	CCDS221.1																																																																																				0.473	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		38	232	0	0	0	1	0	38	232				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	603	0	0	0	1	0	5	603				
NID2	22795	broad.mit.edu	37	14	52507535	52507535	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:52507535G>A	ENST00000216286.5	-	8	1859	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	NID2_ENST00000541773.1_Silent_p.F567F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	620	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTCCCGGGTAGAATGTAACTT	0.463																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1858-1860)ttC>ttT		nidogen 2 (osteonidogen)							164.0	141.0	149.0					14																	52507535		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52507535G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1860C>T	14.37:g.52507535G>A						NID2_ENST00000541773.1_Silent_p.F567F	p.F620F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			8	1859	-	Breast(41;0.0639)|all_epithelial(31;0.123)		620			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.1860C>T	CCDS9706.1																																																																																				0.463	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			140	265	0	0	0	1	0	140	265				
MUC16	94025	broad.mit.edu	37	19	9064306	9064306	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:9064306G>A	ENST00000397910.4	-	3	23343	c.23140C>T	c.(23140-23142)Ccc>Tcc	p.P7714S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7716	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGGAAGGGGAGAGGGGGGG	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23140-23142)Ccc>Tcc		mucin 16, cell surface associated							96.0	96.0	96.0					19																	9064306		2025	4178	6203	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064306G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23140C>T	19.37:g.9064306G>A	ENSP00000381008:p.Pro7714Ser						p.P7714S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23343	-			7716			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23140C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.343	-0.134144	0.06711	.	.	ENSG00000181143	ENST00000397910	T	0.20598	2.06	2.11	-3.35	0.04928	.	.	.	.	.	T	0.09113	0.0225	N	0.14661	0.345	.	.	.	P	0.35456	0.502	B	0.27887	0.084	T	0.18903	-1.0322	8	0.87932	D	0	.	6.4736	0.22022	0.6167:0.0:0.3833:0.0	.	7714	B5ME49	.	S	7714	ENSP00000381008:P7714S	ENSP00000381008:P7714S	P	-	1	0	MUC16	8925306	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.693000	0.01917	-0.722000	0.04922	-1.051000	0.02340	CCC		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		48	276	0	0	0	1	0	48	276				
OR13C2	392376	broad.mit.edu	37	9	107367328	107367328	+	Missense_Mutation	SNP	T	T	C	rs74954118		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:107367328T>C	ENST00000542196.1	-	1	623	c.581A>G	c.(580-582)gAc>gGc	p.D194G		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAACTCATTGTCTGAGATGTC	0.388																																						ENST00000542196.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(580-582)gAc>gGc		olfactory receptor, family 13, subfamily C, member 2							158.0	152.0	154.0					9																	107367328		2201	4300	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367328T>C		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.581A>G	9.37:g.107367328T>C	ENSP00000438815:p.Asp194Gly						p.D194G	NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN			1	623	-			194					B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.581A>G	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	T	5.601	0.295593	0.10622	.	.	ENSG00000257019	ENST00000542196	T	0.00076	8.76	3.52	-3.12	0.05282	GPCR, rhodopsin-like superfamily (1);	0.807899	0.10032	N	0.724612	T	0.00073	0.0002	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01337	-1.1381	10	0.26408	T	0.33	.	3.4954	0.07653	0.4312:0.2306:0.0:0.3382	.	194	Q8NGS9	O13C2_HUMAN	G	194	ENSP00000438815:D194G	ENSP00000438815:D194G	D	-	2	0	OR13C2	106407149	0.000000	0.05858	0.006000	0.13384	0.702000	0.40608	-0.856000	0.04290	-0.430000	0.07318	-0.415000	0.06103	GAC		0.388	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		18	568	0	0	0	1	0	18	568				
RAET1G	353091	broad.mit.edu	37	6	150240238	150240238	+	Missense_Mutation	SNP	G	G	A	rs200821816		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:150240238G>A	ENST00000367360.2	-	3	639	c.572C>T	c.(571-573)aCa>aTa	p.T191I	RAET1G_ENST00000479265.1_Missense_Mutation_p.T191I|RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		AAGCCATCCTGTGCAGTCTCC	0.483																																						ENST00000367360.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(571-573)aCa>aTa		retinoic acid early transcript 1G							229.0	213.0	219.0					6																	150240238		2203	4300	6503	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240238G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.572C>T	6.37:g.150240238G>A	ENSP00000356329:p.Thr191Ile					RAET1G_ENST00000479265.1_Missense_Mutation_p.T191I|RP11-244K5.1_ENST00000446954.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	p.T191I	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	3	639	-		Ovarian(120;0.0907)	191			MHC class I alpha-2 like.			Missense_Mutation	SNP	ENST00000367360.2	37	c.572C>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	G	3.947	-0.013017	0.07727	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.61158	0.13;0.13	2.4	-1.72	0.08107	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.09598	0.0236	N	0.05078	-0.115	0.09310	N	1	B	0.22211	0.066	B	0.28232	0.087	T	0.32322	-0.9911	9	0.09338	T	0.73	.	3.3876	0.07277	0.0:0.3347:0.2213:0.444	.	191	Q6H3X3	RET1G_HUMAN	I	191	ENSP00000356329:T191I;ENSP00000417503:T191I	ENSP00000356329:T191I	T	-	2	0	RAET1G	150281931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.322000	0.02695	-0.497000	0.06641	-0.432000	0.05891	ACA		0.483	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			5	580	0	0	0	1	0	5	580				
IVNS1ABP	10625	broad.mit.edu	37	1	185270175	185270175	+	Missense_Mutation	SNP	G	G	T	rs146850606		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:185270175G>T	ENST00000367498.3	-	10	1671	c.1049C>A	c.(1048-1050)cCc>cAc	p.P350H	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.P132H|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	350	Sufficient for AHR interaction and signaling.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGGAGACATGGGCTTTTCGAT	0.453																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1048-1050)cCc>cAc		influenza virus NS1A binding protein		G	HIS/PRO	1,4405	2.1+/-5.4	0,1,2202	174.0	158.0	164.0		1049	5.8	1.0	1	dbSNP_134	164	0,8600		0,0,4300	no	missense	IVNS1ABP	NM_006469.4	77	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	350/643	185270175	1,13005	2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185270175G>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1049C>A	1.37:g.185270175G>T	ENSP00000356468:p.Pro350His					IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.P132H|IVNS1ABP_ENST00000459929.1_5'UTR	p.P350H	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			10	1671	-			350			Sufficient for AHR interaction and signaling.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1049C>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494380	0.64186	2.27E-4	0.0	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.09255	3.0;3.0	5.78	5.78	0.91487	Galactose oxidase, beta-propeller (1);	0.205916	0.52532	D	0.000062	T	0.11110	0.0271	N	0.08118	0	0.48040	D	0.999577	D;D;D	0.63880	0.993;0.97;0.985	P;P;P	0.53185	0.72;0.541;0.628	T	0.11470	-1.0586	10	0.66056	D	0.02	.	13.2363	0.59971	0.0722:0.0:0.9278:0.0	.	132;51;350	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	H	350;132	ENSP00000356468:P350H;ENSP00000375864:P132H	ENSP00000356468:P350H	P	-	2	0	IVNS1ABP	183536798	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.621000	0.67743	2.724000	0.93272	0.563000	0.77884	CCC		0.453	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		5	419	1	0	2.0095e-06	1	2.08479e-06	5	419				
CASP2	835	broad.mit.edu	37	7	143002066	143002066	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:143002066G>T	ENST00000310447.5	+	11	1502	c.1261G>T	c.(1261-1263)Gct>Tct	p.A421S	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	421					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GGAAGGTTATGCTCCTGGCAC	0.552																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1261-1263)Gct>Tct		caspase 2, apoptosis-related cysteine peptidase							97.0	81.0	86.0					7																	143002066		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:143002066G>T	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.1261G>T	7.37:g.143002066G>T	ENSP00000312664:p.Ala421Ser					CASP2_ENST00000493642.1_3'UTR	p.A421S	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			11	1502	+	Melanoma(164;0.059)		421					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.1261G>T	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219130	0.95104	.	.	ENSG00000106144	ENST00000310447	T	0.29142	1.58	5.27	5.27	0.74061	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	N	0.11789	0.175	0.80722	D	1	D	0.59357	0.985	P	0.62560	0.904	T	0.03887	-1.0995	10	0.06494	T	0.89	.	18.9739	0.92728	0.0:0.0:1.0:0.0	.	421	P42575	CASP2_HUMAN	S	421	ENSP00000312664:A421S	ENSP00000312664:A421S	A	+	1	0	CASP2	142712188	1.000000	0.71417	0.963000	0.40424	0.944000	0.59088	9.394000	0.97261	2.478000	0.83669	0.650000	0.86243	GCT		0.552	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		95	238	1	0	1.37074e-43	1	1.51054e-43	95	238				
SUGT1	10910	broad.mit.edu	37	13	53227075	53227075	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:53227075G>A	ENST00000343788.6	+	1	102	c.20G>A	c.(19-21)gGa>gAa	p.G7E	SUGT1_ENST00000310528.8_Missense_Mutation_p.G7E|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	7					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		gctgcagcagGAACTGCAACA	0.542											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310528.7																			0				kidney(3)|large_intestine(3)|lung(2)	8						c.(19-21)gGa>gAa		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							79.0	78.0	79.0					13																	53227075		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53227075G>A	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.20G>A	13.37:g.53227075G>A	ENSP00000367208:p.Gly7Glu		OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.G7E	p.G7E	NM_006704.3	NP_006695.1	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	1	75	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	7					A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.20G>A	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	G	8.714	0.912663	0.17907	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.22134	1.97;1.98	4.02	2.14	0.27477	.	0.421812	0.21072	N	0.080645	T	0.10252	0.0251	N	0.08118	0	0.27126	N	0.962025	P;B	0.37781	0.608;0.447	B;B	0.34824	0.131;0.19	T	0.14476	-1.0471	10	0.87932	D	0	-3.5695	10.3823	0.44119	0.0:0.3812:0.6188:0.0	.	7;7	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	E	7	ENSP00000367208:G7E;ENSP00000308067:G7E	ENSP00000308067:G7E	G	+	2	0	SUGT1	52125076	0.135000	0.22499	0.864000	0.33941	0.730000	0.41778	-0.029000	0.12329	0.873000	0.35799	0.467000	0.42956	GGA		0.542	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			61	191	0	0	0	1	0	61	191				
RAB11FIP3	9727	broad.mit.edu	37	16	476687	476687	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:476687C>T	ENST00000262305.4	+	1	1069	c.681C>T	c.(679-681)ttC>ttT	p.F227F	RAB11FIP3_ENST00000457159.1_Silent_p.F227F	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	227	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				TCGAGGACTTCATCCAGTTTG	0.706																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(679-681)ttC>ttT		RAB11 family interacting protein 3 (class II)							28.0	37.0	34.0					16																	476687		2198	4298	6496	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:476687C>T	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.681C>T	16.37:g.476687C>T						RAB11FIP3_ENST00000457159.1_Silent_p.F227F	p.F227F	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			1	1069	+		Hepatocellular(16;0.0218)	227			EF-hand 1.		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.681C>T	CCDS32351.1																																																																																				0.706	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		5	209	0	0	0	1	0	5	209				
ABTB2	25841	broad.mit.edu	37	11	34182562	34182562	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:34182562G>A	ENST00000435224.2	-	11	2709	c.2285C>T	c.(2284-2286)tCg>tTg	p.S762L	ABTB2_ENST00000298992.2_Missense_Mutation_p.S576L	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	762					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGCACCACCGAGTACCGCGA	0.612																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2284-2286)tCg>tTg		ankyrin repeat and BTB (POZ) domain containing 2							76.0	65.0	69.0					11																	34182562		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34182562G>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2285C>T	11.37:g.34182562G>A	ENSP00000410157:p.Ser762Leu					ABTB2_ENST00000298992.2_Missense_Mutation_p.S576L	p.S762L	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			11	2709	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	576					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2285C>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314888	0.60524	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60424	0.19;0.19	5.15	5.15	0.70609	.	0.192066	0.46442	D	0.000289	T	0.50514	0.1620	L	0.53249	1.67	0.45852	D	0.998714	P	0.45672	0.864	B	0.31495	0.131	T	0.60652	-0.7221	10	0.54805	T	0.06	-16.6682	18.6197	0.91317	0.0:0.0:1.0:0.0	.	576	Q8N961	ABTB2_HUMAN	L	762;576	ENSP00000410157:S762L;ENSP00000298992:S576L	ENSP00000298992:S576L	S	-	2	0	ABTB2	34139138	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	4.222000	0.58580	2.401000	0.81631	0.561000	0.74099	TCG		0.612	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		5	136	0	0	0	1	0	5	136				
SIPA1	6494	broad.mit.edu	37	11	65413984	65413984	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:65413984C>T	ENST00000394224.3	+	8	1775	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	SIPA1_ENST00000527525.1_Silent_p.G493G|SIPA1_ENST00000394227.3_Silent_p.G493G|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Silent_p.G493G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	493	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCTGCTGGCGGAGGCCCCT	0.716																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1477-1479)ggC>ggT		signal-induced proliferation-associated 1							9.0	8.0	8.0					11																	65413984		2172	4265	6437	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413984C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1479C>T	11.37:g.65413984C>T						SIPA1_ENST00000394227.3_Silent_p.G493G|SIPA1_ENST00000527525.1_Silent_p.G493G|SIPA1_ENST00000534313.1_Silent_p.G493G	p.G493G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			8	1775	+			493			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.1479C>T	CCDS8108.1																																																																																				0.716	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		10	73	0	0	0	1	0	10	73				
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378																																						ENST00000356526.2																			1	Substitution - coding silent(1)	p.C112C(1)	lung(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(334-336)tgT>tgC		olfactory receptor, family 5, subfamily H, member 15							119.0	117.0	117.0					3																	97887879		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887879T>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.336T>C	3.37:g.97887879T>C							p.C112C	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	336	+			112						Silent	SNP	ENST00000356526.2	37	c.336T>C	CCDS33799.1																																																																																				0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			7	838	0	0	0	1	0	7	838				
CERK	64781	broad.mit.edu	37	22	47087589	47087589	+	Silent	SNP	G	G	T	rs201852137		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:47087589G>T	ENST00000216264.8	-	11	1324	c.1212C>A	c.(1210-1212)ccC>ccA	p.P404P	CERK_ENST00000541677.1_Silent_p.P206P|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	404					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGGCCCCTGGGGCTCCGGC	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17513	0.0		0.0	False		,,,				2504	0.0					ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(1210-1212)ccC>ccA		ceramide kinase							49.0	46.0	47.0					22																	47087589		2202	4300	6502	SO:0001819	synonymous_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47087589G>T	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1212C>A	22.37:g.47087589G>T						CERK_ENST00000471929.1_5'UTR|CERK_ENST00000541677.1_Silent_p.P206P	p.P404P	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	11	1324	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	404					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	c.1212C>A	CCDS14077.1																																																																																				0.557	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		71	313	1	0	2.32478e-39	1	2.53665e-39	71	313				
MICALCL	84953	broad.mit.edu	37	11	12316364	12316364	+	Silent	SNP	T	T	C	rs200708492		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:12316364T>C	ENST00000256186.2	+	3	1677	c.1386T>C	c.(1384-1386)ccT>ccC	p.P462P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	462	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.P462P(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ctcctcctcctcctcctcctc	0.582																																						ENST00000256186.2																			2	Substitution - coding silent(2)	p.P462P(2)	ovary(2)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1384-1386)ccT>ccC		MICAL C-terminal like							9.0	10.0	9.0					11																	12316364		1919	4019	5938	SO:0001819	synonymous_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316364T>C	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1386T>C	11.37:g.12316364T>C							p.P462P	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1677	+			462			Poly-Pro.		Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	c.1386T>C	CCDS41620.1																																																																																				0.582	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		4	88	0	0	0	1	0	4	88				
SLC9A7P1	121456	broad.mit.edu	37	12	98849769	98849769	+	RNA	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:98849769G>A	ENST00000554295.1	-	0	1154					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		CTGTAAATCCGCAAGCTTCTG	0.493																																						ENST00000554295.1																			0																																																			0							g.chr12:98849769G>A			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849769G>A								NR_033801.1						0	1154	-									RNA	SNP	ENST00000554295.1	37																																																																																						0.493	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1			5	367	0	0	0	1	0	5	367				
IGHV3-53	28420	broad.mit.edu	37	14	107048673	107048673	+	RNA	SNP	C	C	T	rs199800310	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:107048673C>T	ENST00000390627.2	-	0	567									immunoglobulin heavy variable 3-53																		CACTGTGTCTCTCGCACAGTA	0.567																																						ENST00000390627.2																			0																				78.0	91.0	87.0					14																	107048673		2005	4199	6204			0							g.chr14:107048673C>T	M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048673C>T														0	567	-									RNA	SNP	ENST00000390627.2	37																																																																																						0.567	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324612.1	NG_001019		6	409	0	0	0	1	0	6	409				
PLXND1	23129	broad.mit.edu	37	3	129289944	129289944	+	Missense_Mutation	SNP	G	G	A	rs528635984		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:129289944G>A	ENST00000324093.4	-	18	3717	c.3539C>T	c.(3538-3540)aCg>aTg	p.T1180M	PLXND1_ENST00000393239.1_Missense_Mutation_p.T1180M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1180					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCTCTTGGCCGTAGAGAACTG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17056	0.0		0.0	False		,,,				2504	0.001				Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(3538-3540)aCg>aTg		plexin D1							137.0	150.0	146.0					3																	129289944		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129289944G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3539C>T	3.37:g.129289944G>A	ENSP00000317128:p.Thr1180Met					PLXND1_ENST00000324093.4_Missense_Mutation_p.T1180M	p.T1180M			Q9Y4D7	PLXD1_HUMAN			18	3717	-			1180					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.3539C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859213	0.71834	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35605	1.35;1.3	5.08	5.08	0.68730	.	0.338132	0.30830	N	0.008800	T	0.56031	0.1958	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.56288	-0.8004	10	0.49607	T	0.09	.	18.4653	0.90752	0.0:0.0:1.0:0.0	.	1180	Q9Y4D7	PLXD1_HUMAN	M	1180	ENSP00000317128:T1180M;ENSP00000376931:T1180M	ENSP00000317128:T1180M	T	-	2	0	PLXND1	130772634	1.000000	0.71417	0.996000	0.52242	0.394000	0.30568	9.121000	0.94375	2.366000	0.80165	0.491000	0.48974	ACG		0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		7	1348	0	0	0	1	0	7	1348				
SHANK1	50944	broad.mit.edu	37	19	51219698	51219698	+	Missense_Mutation	SNP	G	G	A	rs143340442		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:51219698G>A	ENST00000293441.1	-	2	311	c.293C>T	c.(292-294)aCg>aTg	p.T98M	SHANK1_ENST00000391814.1_Missense_Mutation_p.T98M|SHANK1_ENST00000359082.3_Missense_Mutation_p.T98M	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	98					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTGCTTGGCCGTCCAGATGGT	0.627													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17669	0.0		0.0	False		,,,				2504	0.0					ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(292-294)aCg>aTg		SH3 and multiple ankyrin repeat domains 1			MET/THR	0,4406		0,0,2203	54.0	56.0	55.0		293	1.8	1.0	19	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHANK1	NM_016148.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	98/2162	51219698	1,13005	2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219698G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.293C>T	19.37:g.51219698G>A	ENSP00000293441:p.Thr98Met					SHANK1_ENST00000359082.3_Missense_Mutation_p.T98M|SHANK1_ENST00000391814.1_Missense_Mutation_p.T98M	p.T98M	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	311	-		all_neural(266;0.057)	98					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.293C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	5.379	0.255161	0.10185	0.0	1.16E-4	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.18338	2.22;2.22;2.22	2.81	1.75	0.24633	.	0.706757	0.12058	U	0.503416	T	0.09598	0.0236	L	0.43152	1.355	0.25616	N	0.98645	P	0.49783	0.928	B	0.29176	0.099	T	0.26430	-1.0103	10	0.46703	T	0.11	.	4.9355	0.13939	0.4008:0.0:0.5992:0.0	.	98	Q9Y566	SHAN1_HUMAN	M	98	ENSP00000293441:T98M;ENSP00000351984:T98M;ENSP00000375690:T98M	ENSP00000293441:T98M	T	-	2	0	SHANK1	55911510	0.992000	0.36948	0.951000	0.38953	0.068000	0.16541	2.421000	0.44688	0.521000	0.28445	-0.401000	0.06369	ACG		0.627	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	397	0	0	0	1	0	5	397				
PRDM2	7799	broad.mit.edu	37	1	14105124	14105124	+	Missense_Mutation	SNP	A	A	T	rs556843220	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:14105124A>T	ENST00000235372.7	+	8	1690	c.834A>T	c.(832-834)gaA>gaT	p.E278D	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.E278D|PRDM2_ENST00000413440.1_Missense_Mutation_p.E77D|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.E77D|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	278	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		aggaggatgaagaagaagaag	0.498													A|||	3	0.000599042	0.0	0.0	5008	,	,		19571	0.0		0.001	False		,,,				2504	0.002					ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(832-834)gaA>gaT		PR domain containing 2, with ZNF domain							56.0	57.0	57.0					1																	14105124		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105124A>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.834A>T	1.37:g.14105124A>T	ENSP00000235372:p.Glu278Asp					PRDM2_ENST00000343137.4_Missense_Mutation_p.E77D|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.E278D|PRDM2_ENST00000413440.1_Missense_Mutation_p.E77D	p.E278D	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	1690	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	278	EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 4; AAA87023).		Asp/Glu-rich (acidic).		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.834A>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.900977	0.00058	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137;ENST00000407521	T;T;T;T	0.01871	4.73;4.59;4.69;4.69	1.23	-2.46	0.06461	.	0.178267	0.19455	U	0.113847	T	0.00845	0.0028	N	0.08118	0	0.19775	N	0.999955	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.43702	-0.9375	10	0.07325	T	0.83	.	0.0761	0.00027	0.3091:0.2376:0.2157:0.2375	.	278;136;278;278	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	D	278;278;278;77;77;77	ENSP00000235372:E278D;ENSP00000312352:E278D;ENSP00000411103:E77D;ENSP00000341621:E77D	ENSP00000235372:E278D	E	+	3	2	PRDM2	13977711	0.979000	0.34478	0.186000	0.23195	0.093000	0.18481	-0.759000	0.04761	-1.632000	0.01541	-1.785000	0.00643	GAA		0.498	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		5	314	0	0	0	1	0	5	314				
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000537199.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			2	Substitution - Missense(2)	p.P566H(2)	urinary_tract(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1696-1698)cCt>cAt		serine/arginine repetitive matrix 1							53.0	45.0	48.0					1																	24993374		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993374C>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1697C>A	1.37:g.24993374C>A	ENSP00000326261:p.Pro566His					SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H	p.P566H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	2012	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	566			Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1697C>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173271	0.78452	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56776	0.44;0.65;0.71	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.70613	0.3244	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68074	-0.5505	10	0.42905	T	0.14	-3.0627	19.3453	0.94361	0.0:1.0:0.0:0.0	.	578;566	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	H	566;578;575	ENSP00000326261:P566H;ENSP00000391430:P578H;ENSP00000363510:P575H	ENSP00000326261:P566H	P	+	2	0	SRRM1	24865961	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.865000	0.62998	2.654000	0.90174	0.650000	0.86243	CCT		0.542	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		5	317	1	0	3.59834e-05	1	3.69852e-05	5	317				
AHNAK2	113146	broad.mit.edu	37	14	105409470	105409470	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:105409470C>T	ENST00000333244.5	-	7	12437	c.12318G>A	c.(12316-12318)ccG>ccA	p.P4106P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4106						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTTTGCTCTCGGGGCCTGGA	0.577																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12316-12318)ccG>ccA		AHNAK nucleoprotein 2							190.0	199.0	196.0					14																	105409470		1961	4143	6104	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409470C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12318G>A	14.37:g.105409470C>T						AHNAK2_ENST00000557457.1_Intron	p.P4106P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12437	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4106					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12318G>A	CCDS45177.1																																																																																				0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	1338	0	0	0	1	0	9	1338				
SPERT	220082	broad.mit.edu	37	13	46287490	46287490	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:46287490C>T	ENST00000310521.1	+	3	410	c.330C>T	c.(328-330)gcC>gcT	p.A110A	SPERT_ENST00000378966.3_Silent_p.A74A	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	110						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TGTCCCAGGCCGACCTGGAGC	0.647																																						ENST00000378966.3																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(220-222)gcC>gcT		spermatid associated							62.0	66.0	65.0					13																	46287490		2203	4300	6503	SO:0001819	synonymous_variant	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287490C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.330C>T	13.37:g.46287490C>T						SPERT_ENST00000310521.1_Silent_p.A110A	p.A74A			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	638	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	110					A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	c.222C>T	CCDS9399.1																																																																																				0.647	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		8	719	0	0	0	1	0	8	719				
STXBP5L	9515	broad.mit.edu	37	3	120957910	120957910	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:120957910T>C	ENST00000273666.6	+	13	1548	c.1277T>C	c.(1276-1278)aTt>aCt	p.I426T	STXBP5L_ENST00000492541.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I426T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	426					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCGGATTTGATTCTAGTACTG	0.313																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1276-1278)aTt>aCt		syntaxin binding protein 5-like							53.0	50.0	51.0					3																	120957910		1834	4093	5927	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120957910T>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1277T>C	3.37:g.120957910T>C	ENSP00000273666:p.Ile426Thr					STXBP5L_ENST00000472879.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I426T	p.I426T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	13	1548	+			426					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1277T>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586545	0.46110	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.39229	1.78;1.78;1.58;1.09;1.58;1.79	4.97	4.97	0.65823	WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.64997	1.995	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.996	T	0.64381	-0.6421	10	0.59425	D	0.04	-30.5866	14.8108	0.69994	0.0:0.0:0.0:1.0	.	426;426	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	T	426	ENSP00000273666:I426T;ENSP00000420019:I426T;ENSP00000419627:I426T;ENSP00000420287:I426T;ENSP00000420666:I426T;ENSP00000420167:I426T	ENSP00000273666:I426T	I	+	2	0	STXBP5L	122440600	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	7.827000	0.86722	2.088000	0.63022	0.533000	0.62120	ATT		0.313	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			8	238	0	0	0	1	0	8	238				
IL17C	27189	broad.mit.edu	37	16	88706381	88706381	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:88706381C>T	ENST00000244241.4	+	3	544	c.495C>T	c.(493-495)cgC>cgT	p.R165R		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	165					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCTGCTCCCGCGACGGCTCGG	0.701																																						ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(493-495)cgC>cgT		interleukin 17C							29.0	35.0	33.0					16																	88706381		1999	4138	6137	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706381C>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.495C>T	16.37:g.88706381C>T							p.R165R	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	544	+			165					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.495C>T	CCDS42217.1																																																																																				0.701	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		12	379	0	0	0	1	0	12	379				
PRKDC	5591	broad.mit.edu	37	8	48691183	48691183	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:48691183A>C	ENST00000314191.2	-	84	11743	c.11687T>G	c.(11686-11688)tTc>tGc	p.F3896C	PRKDC_ENST00000338368.3_Missense_Mutation_p.F3865C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3897	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGCGCCAGGAAAGCCTCAGG	0.562								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(11686-11688)tTc>tGc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							38.0	38.0	38.0					8																	48691183		1976	4152	6128	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48691183A>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11687T>G	8.37:g.48691183A>C	ENSP00000313420:p.Phe3896Cys					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.F3865C	p.F3896C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			84	11743	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3897			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11687T>G		.	.	.	.	.	.	.	.	.	.	A	18.53	3.644011	0.67244	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	D;D	0.83250	-1.7;-1.7	5.52	5.52	0.82312	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.987	D	0.94371	0.7596	10	0.87932	D	0	.	15.6454	0.77046	1.0:0.0:0.0:0.0	.	3865;3897	E7EUY0;P78527	.;PRKDC_HUMAN	C	3896;3865	ENSP00000313420:F3896C;ENSP00000345182:F3865C	ENSP00000313420:F3896C	F	-	2	0	PRKDC	48853736	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	8.843000	0.92142	2.084000	0.62774	0.533000	0.62120	TTC		0.562	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		27	110	0	0	0	1	0	27	110				
SHROOM4	57477	broad.mit.edu	37	X	50377159	50377159	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:50377159A>G	ENST00000289292.7	-	4	2197	c.1914T>C	c.(1912-1914)tcT>tcC	p.S638S	SHROOM4_ENST00000376020.2_Silent_p.S638S|SHROOM4_ENST00000460112.3_Silent_p.S522S			Q9ULL8	SHRM4_HUMAN	shroom family member 4	638					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAGATAGAAGAGATGTGTTAG	0.522																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1912-1914)tcT>tcC		shroom family member 4							57.0	60.0	59.0					X																	50377159		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377159A>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1914T>C	X.37:g.50377159A>G						SHROOM4_ENST00000460112.3_Silent_p.S522S|SHROOM4_ENST00000289292.7_Silent_p.S638S	p.S638S	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1939	-	Ovarian(276;0.236)		638					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.1914T>C	CCDS35277.1																																																																																				0.522	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		44	368	0	0	0	1	0	44	368				
BMP2K	55589	broad.mit.edu	37	4	79792103	79792103	+	Silent	SNP	G	G	A	rs534035187	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:79792103G>A	ENST00000335016.5	+	11	1564	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BMP2K_ENST00000502871.1_Silent_p.Q466Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	466	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcagcagcaacagc	0.547													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		11572	0.0		0.0	False		,,,				2504	0.0					ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1396-1398)caG>caA		BMP2 inducible kinase							27.0	31.0	30.0					4																	79792103		2186	4237	6423	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792103G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1398G>A	4.37:g.79792103G>A						BMP2K_ENST00000502871.1_Silent_p.Q466Q	p.Q466Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1564	+			466			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.1398G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	1.548	-0.540072	0.04053	.	.	ENSG00000138756	ENST00000502613	.	.	.	3.26	0.0695	0.14374	.	.	.	.	.	T	0.52533	0.1740	.	.	.	0.45272	D	0.998274	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	-8.7742	6.241	0.20791	0.3659:0.1256:0.5085:0.0	.	.	.	.	T	159	.	.	A	+	1	0	BMP2K	80011127	1.000000	0.71417	0.031000	0.17742	0.025000	0.11179	0.486000	0.22340	-0.813000	0.04357	-1.509000	0.00949	GCA		0.547	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		5	246	0	0	0	1	0	5	246				
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:6536011_6536013delCTC	ENST00000400915.3	-	4	361_363	c.295_297delGAG	c.(295-297)gagdel	p.E99del	PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377748.1_In_Frame_Del_p.E120del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377748.1																			0				liver(1)	1						c.(358-360)del		pleckstrin homology domain containing, family G (with RhoGef domain) member 5																																				SO:0001651	inframe_deletion	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6536011_6536013delCTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.295_297delGAG	1.37:g.6536020_6536022delCTC	ENSP00000383706:p.Glu99del		OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del	p.E120del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	4	855_857	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	99					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	ENST00000400915.3	37	c.358_360delGAG	CCDS41241.1																																																																																				0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		7	562						7	562	---	---	---	---
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1.0			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	730_732	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		14	473						14	473	---	---	---	---
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		7	863						7	863	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-	rs549143666|rs377569778	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			19	753						19	753	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:47325282delA	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										ATTTCAATCCAAACATAGCTG	0.393																																						ENST00000505841.1																			0																																																			0							g.chr1:47325282delA	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325282delA								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.393	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		7	163						7	163	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AAAAAAAAAAGTTGTTTTAAGAC	0.409																																						ENST00000505841.1																			0																																																			0							g.chr1:47325313_47325315delGTT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325316_47325318delGTT								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.409	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		11	356						11	356	---	---	---	---
AGL	178	broad.mit.edu	37	1	100378028	100378028	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:100378028delA	ENST00000294724.4	+	29	4382	c.3904delA	c.(3904-3906)aaafs	p.K1303fs	AGL_ENST00000361302.3_Frame_Shift_Del_p.K1287fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361522.4_Frame_Shift_Del_p.K1286fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361915.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000370161.2_Frame_Shift_Del_p.K1287fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1303					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAATTATCCAAAAAAAATAT	0.323																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(3904-3906)aafs		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							88.0	93.0	91.0					1																	100378028		2203	4300	6503	SO:0001589	frameshift_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100378028delA	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3904delA	1.37:g.100378028delA	ENSP00000294724:p.Lys1303fs					AGL_ENST00000370163.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361522.4_Frame_Shift_Del_p.K1286fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.K1287fs|AGL_ENST00000361915.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000370161.2_Frame_Shift_Del_p.K1287fs	p.K1303fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	29	4382	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1303					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Frame_Shift_Del	DEL	ENST00000294724.4	37	c.3904delA	CCDS759.1																																																																																				0.323	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		7	416						7	416	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		17	81						17	81	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145112674	145112674	+	RNA	DEL	T	T	-	rs587656712|rs149646425	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:145112674delT	ENST00000453618.1	+	0	820							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTCCAATATATTTTTTTTCCT	0.294																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145112674delT	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145112674delT										O75396	SC22B_HUMAN			0	820	+								A8K1G0	RNA	DEL	ENST00000453618.1	37																																																																																						0.294	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		8	45						8	45	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		12	1191						12	1191	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160295426	160295427	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:160295426_160295427insT	ENST00000241704.7	-	7	741_742	c.512_513insA	c.(511-513)aacfs	p.N171fs	COPA_ENST00000368069.3_Frame_Shift_Ins_p.N171fs|Y_RNA_ENST00000365208.1_RNA	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	171					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGGACAGGTTTTTTTTCCT	0.406																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(511-513)actfs		coatomer protein complex, subunit alpha																																				SO:0001589	frameshift_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160295426_160295427insT	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.513dupA	1.37:g.160295434_160295434dupT	ENSP00000241704:p.Asn171fs					COPA_ENST00000368069.3_Frame_Shift_Ins_p.T171fs	p.T171fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	741_742	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		171					Q5T201|Q8IXZ9	Frame_Shift_Ins	INS	ENST00000241704.7	37	c.512_513insA	CCDS1202.1																																																																																				0.406	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	646						7	646	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		8	488						8	488	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240371335	240371337	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:240371335_240371337delCCC	ENST00000319653.9	+	5	3453_3455	c.3223_3225delCCC	c.(3223-3225)cccdel	p.P1079del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1079	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCGGGCATACCCCCTCCGCCCC	0.729																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3223-3225)del		formin 2				32,2284		3,26,1129						-6.1	0.0			3	2,4918		0,2,2458	no	coding	FMN2	NM_020066.4		3,28,3587	A1A1,A1R,RR		0.0407,1.3817,0.4699				34,7202				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371335_240371337delCCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3223_3225delCCC	1.37:g.240371335_240371337delCCC	ENSP00000318884:p.Pro1079del						p.P1079del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3453_3455	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1079			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.3223_3225delCCC	CCDS31069.2																																																																																				0.729	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	109						7	109	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240371665	240371667	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:240371665_240371667delCCT	ENST00000319653.9	+	5	3783_3785	c.3553_3555delCCT	c.(3553-3555)cctdel	p.P1189del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1189	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGTGGGAATACCTCCTCCGCCCC	0.68																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3553-3555)del		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371665_240371667delCCT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3553_3555delCCT	1.37:g.240371668_240371670delCCT	ENSP00000318884:p.Pro1189del						p.P1189del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3783_3785	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1189			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.3553_3555delCCT	CCDS31069.2																																																																																				0.680	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	219						7	219	---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:63283259_63283261delCCA	ENST00000282549.2	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggccac>ggc	p.H301del	OTX1_ENST00000366671.3_In_Frame_Del_p.H301del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	301	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.64																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(871-876)ggc>gg		orthodenticle homeobox 1																																				SO:0001651	inframe_deletion	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283259_63283261delCCA		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.873_875delCCA	2.37:g.63283268_63283270delCCA	ENSP00000282549:p.His301del					OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del	p.GH291del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1149_1151	+	Lung NSC(7;0.121)|all_lung(7;0.211)		291			His-rich.		A6NHA2|B3KTJ4|Q53TG6	In_Frame_Del	DEL	ENST00000282549.2	37	c.873_875delCCA	CCDS1873.1																																																																																				0.640	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			10	477						10	477	---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64084969	64084969	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:64084969delA	ENST00000337130.5	+	3	630	c.154delA	c.(154-156)aaafs	p.K53fs	UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	53					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ACAGCACACCAAAAAAGACCT	0.358																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(154-156)aafs		UDP-glucose pyrophosphorylase 2							161.0	191.0	181.0					2																	64084969		2203	4300	6503	SO:0001589	frameshift_variant	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64084969delA		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.154delA	2.37:g.64084969delA	ENSP00000338703:p.Lys53fs					UGP2_ENST00000487469.1_Intron|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs	p.K53fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			3	630	+			53					Q07131|Q0P6K2|Q86Y81|Q9BU15	Frame_Shift_Del	DEL	ENST00000337130.5	37	c.154delA	CCDS1875.1																																																																																				0.358	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		8	1624						8	1624	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74687550	74687550	+	Frame_Shift_Del	DEL	T	T	-	rs8469	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:74687550delT	ENST00000233615.2	+	4	826	c.552delT	c.(550-552)cctfs	p.P184fs	WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs|WBP1_ENST00000494741.1_3'UTR|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000393972.3_Frame_Shift_Del_p.P218fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	184							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GTGCCCCCCCTCATCAGGAGG	0.612																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(652-654)ccfs		WW domain binding protein 1							52.0	70.0	64.0					2																	74687550		2203	4299	6502	SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687550delT	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.552delT	2.37:g.74687550delT	ENSP00000233615:p.Pro184fs					WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Frame_Shift_Del_p.P184fs|WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs	p.P218fs			Q96G27	WBP1_HUMAN			5	857	+			184					B2RE02|O95637	Frame_Shift_Del	DEL	ENST00000233615.2	37	c.654delT	CCDS1943.1																																																																																				0.612	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		13	911						13	911	---	---	---	---
MARCH7	64844	broad.mit.edu	37	2	160605268	160605268	+	Frame_Shift_Del	DEL	T	T	-	rs1365803	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:160605268delT	ENST00000259050.4	+	5	1589	c.1467delT	c.(1465-1467)cctfs	p.P490fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.P452fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.P490fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.P434fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	490					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTGCAGTCCCTCCAGCACTTG	0.428																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1465-1467)ccfs		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							192.0	211.0	205.0					2																	160605268		2203	4300	6503	SO:0001589	frameshift_variant	64844						ligase activity|zinc ion binding	g.chr2:160605268delT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1467delT	2.37:g.160605268delT	ENSP00000259050:p.Pro490fs					MARCH7_ENST00000409591.1_Frame_Shift_Del_p.P452fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.P490fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.P434fs	p.P490fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1589	+			490					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	ENST00000259050.4	37	c.1467delT	CCDS2210.1																																																																																				0.428	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		7	1732						7	1732	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3769-3771)atfs		dynein, axonemal, heavy chain 7							103.0	95.0	97.0					2																	196788374		1906	4139	6045	SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788374delT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3770delA	2.37:g.196788374delT	ENSP00000311273:p.Asn1257fs						p.N1257fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3870	-			1257			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	c.3770delA	CCDS42794.1																																																																																				0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		8	367						8	367	---	---	---	---
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgggag>cgg	p.E222del	EFHD1_ENST00000410095.1_In_Frame_Del_p.E110del|EFHD1_ENST00000409708.1_In_Frame_Del_p.E110del|EFHD1_ENST00000409613.1_In_Frame_Del_p.E126del|snoU13_ENST00000459149.1_RNA	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	222					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(652-657)cgg>cg		EF-hand domain family, member D1																																				SO:0001651	inframe_deletion	80303						calcium ion binding|protein binding	g.chr2:233546363_233546365delGGA		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.654_656delGGA	2.37:g.233546372_233546374delGGA	ENSP00000264059:p.Glu222del					EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del	p.RE218del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1131_1133	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	218					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	In_Frame_Del	DEL	ENST00000264059.3	37	c.654_656delGGA	CCDS2497.1																																																																																				0.547	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		7	559						7	559	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		7	491						7	491	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:33602361delT	ENST00000468888.2	-	28	2939	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000399362.4_Frame_Shift_Del_p.M964fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	745	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2890-2892)tgfs		cytoplasmic linker associated protein 2							188.0	194.0	192.0					3																	33602361		1841	4103	5944	SO:0001589	frameshift_variant	23122							g.chr3:33602361delT	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2893delA	3.37:g.33602361delT	ENSP00000419974:p.Met965fs					CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs	p.M964fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			28	3243	-			966					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Frame_Shift_Del	DEL	ENST00000468888.2	37	c.2890delA																																																																																					0.343	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		7	536						7	536	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679036	42679036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:42679036delC	ENST00000232978.8	+	13	2028	c.1840delC	c.(1840-1842)cccfs	p.P616fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	616					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGTGACAGTCCCCCCCCTTC	0.423																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1840-1842)ccfs		natural killer-tumor recognition sequence							110.0	121.0	117.0					3																	42679036		2203	4300	6503	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679036delC		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1840delC	3.37:g.42679036delC	ENSP00000232978:p.Pro616fs					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.P616fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2028	+			616						Frame_Shift_Del	DEL	ENST00000232978.8	37	c.1840delC	CCDS2702.1																																																																																				0.423	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		8	740						8	740	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		13	1027						13	1027	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-	rs139764373		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)gaafs	p.E823fs	MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2467-2469)afs		membrane associated guanylate kinase, WW and PDZ domain containing 1																																				SO:0001589	frameshift_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65372850_65372851delTC	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2467_2468delGA	3.37:g.65372860_65372861delTC	ENSP00000331157:p.Glu823fs					MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron	p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	15	2466_2467	-		Lung NSC(201;0.0016)	823			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000330909.8	37	c.2467_2468delGA	CCDS33781.1																																																																																				0.401	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742		9	286						9	286	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126220105	126220106	+	Frame_Shift_Ins	INS	-	-	T	rs569784894		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:126220105_126220106insT	ENST00000290868.2	-	10	973_974	c.920_921insA	c.(919-921)aagfs	p.K307fs	UROC1_ENST00000383579.3_Frame_Shift_Ins_p.K367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGAGCACCTCCTTTTTTTTCCT	0.584																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(919-921)agafs		urocanate hydratase 1																																				SO:0001589	frameshift_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126220105_126220106insT	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.921dupA	3.37:g.126220113_126220113dupT	ENSP00000290868:p.Lys307fs					UROC1_ENST00000383579.3_Frame_Shift_Ins_p.R367fs	p.R307fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	10	973_974	-			307					E9PE13|Q14C64|Q68CJ7	Frame_Shift_Ins	INS	ENST00000290868.2	37	c.920_921insA	CCDS3038.1																																																																																				0.584	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		19	1227						19	1227	---	---	---	---
LINC01322	103695433	broad.mit.edu	37	3	165320478	165320481	+	lincRNA	DEL	TATA	TATA	-	rs138565244|rs562060641|rs150429698|rs140783003|rs398106703|rs35354940	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:165320478_165320481delTATA	ENST00000496693.1	+	0	508																											atttttattttatatatatatata	0.314														3999	0.798522	0.7413	0.6744	5008	,	,		8781	0.8462		0.8241	False		,,,				2504	0.8885					ENST00000496693.1																			0																																																			0							g.chr3:165320478_165320481delTATA																													3.37:g.165320486_165320489delTATA														0	508	+									RNA	DEL	ENST00000496693.1	37																																																																																						0.314	RP11-85M11.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000350253.1			3	6						3	6	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(67-72)atc>a		polyhomeotic homolog 3 (Drosophila)				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del	p.TI23del			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	136_138	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		11	1540						11	1540	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T	rs533914363		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aaacgafs	p.R75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.R75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(220-225)aagatgfs		cyclin-dependent kinase-like 2 (CDC2-related kinase)																																				SO:0001589	frameshift_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539579_76539580insT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.223dupA	4.37:g.76539588_76539588dupT	ENSP00000412365:p.Arg75fs					CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	925_926	-			75			Protein kinase.		B2R695	Frame_Shift_Ins	INS	ENST00000429927.2	37	c.222_223insA	CCDS3570.1																																																																																				0.322	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		10	316						10	316	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(472-477)gct>g		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	p.EA158del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	953_955	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		10	676						10	676	---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-	rs368167746		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		9	488						9	488	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153253860	153253861	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:153253860_153253861delAT	ENST00000281708.4	-	6	2101_2102	c.872_873delAT	c.(871-873)tatfs	p.Y291fs	FBXW7_ENST00000393956.3_Frame_Shift_Del_p.Y115fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.Y173fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.Y211fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.Y291fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	291	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGAAAGCACATAGAGTGCCAA	0.347			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(871-873)tfs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153253860_153253861delAT	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.872_873delAT	4.37:g.153253860_153253861delAT	ENSP00000281708:p.Tyr291fs					FBXW7_ENST00000603548.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.Y173fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.Y211fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.Y115fs	p.Y291fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			6	2101_2102	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	291			F-box.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	ENST00000281708.4	37	c.872_873delAT	CCDS3777.1																																																																																				0.347	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			73	132						73	132	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000438704.2_In_Frame_Del_p.194_195EE>E|HMGB2_ENST00000446922.2_In_Frame_Del_p.194_195EE>E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-585)gaa>ga		high mobility group box 2			,,	25,4237		10,5,2116					,,	-1.4	1.0			279	85,8161		40,5,4078	no	coding,coding,coding	HMGB2	NM_002129.3,NM_001130689.1,NM_001130688.1	,,	50,10,6194	A1A1,A1R,RR		1.0308,0.5866,0.8794	,,	,,		110,12398				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253277_174253279delTCC		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582_584delGGA	4.37:g.174253286_174253288delTCC	ENSP00000296503:p.Glu197del					HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del	p.EE196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455_1457	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.582_584delGGA	CCDS3816.1																																																																																				0.468	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		8	413						8	413	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		10	1271						10	1271	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		10	614						10	614	---	---	---	---
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-	rs576181814		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		7	450						7	450	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86670133	86670134	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:86670133_86670134delTT	ENST00000274376.6	+	14	2494_2495	c.1930_1931delTT	c.(1930-1932)tttfs	p.F644fs	RASA1_ENST00000456692.2_Frame_Shift_Del_p.F467fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.F478fs|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Frame_Shift_Del_p.F477fs	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	644	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGAGTTTGTCTTTGAGTAAGTC	0.332																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(1399-1401)tfs		RAS p21 protein activator (GTPase activating protein) 1																																				SO:0001589	frameshift_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86670133_86670134delTT		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1930_1931delTT	5.37:g.86670133_86670134delTT	ENSP00000274376:p.Phe644fs					RASA1_ENST00000512763.1_Frame_Shift_Del_p.F477fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.F478fs|RASA1_ENST00000274376.6_Frame_Shift_Del_p.F644fs	p.F467fs	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	14	1514_1515	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	644					B2R6W3|Q9UDI1	Frame_Shift_Del	DEL	ENST00000274376.6	37	c.1399_1400delTT	CCDS34200.1																																																																																				0.332	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		10	186						10	186	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130815368	130815369	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:130815368_130815369insT	ENST00000509018.1	-	16	2123_2124	c.1918_1919insA	c.(1918-1920)agtfs	p.S640fs	CTC-432M15.3_ENST00000514667.1_Frame_Shift_Ins_p.S690fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.S640fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.S355fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	640					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGGCGATTACTTTTTTTTTCA	0.366																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1918-1920)taafs		Rap guanine nucleotide exchange factor (GEF) 6																																				SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130815368_130815369insT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1919dupA	5.37:g.130815377_130815377dupT	ENSP00000421684:p.Ser640fs					RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.*640fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.*690fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.*355fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.*640fs	p.*640fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	16	2123_2124	-			640					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Ins	INS	ENST00000509018.1	37	c.1918_1919insA	CCDS34225.1																																																																																				0.366	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		8	511						8	511	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			11	56						11	56	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(523-525)cfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	581_582	-			175					Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		12	312						12	312	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-	rs141838432		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGACTAGGAGAAAAAAAGGTA	0.517																																						ENST00000411500.1																			0																																																			0							g.chr6:32522756delA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522756delA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.517	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		12	120						12	120	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A	rs551348450	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:76599857_76599858insA	ENST00000369977.3	+	26	2881_2882	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	MYO6_ENST00000369975.1_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369981.3_Frame_Shift_Ins_p.K915fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	915					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	18	0.00359425	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0061					ENST00000369981.3																			1	Deletion - Frameshift(1)	p.K917fs*10(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2740-2745)caaaaafs		myosin VI				9,4255		0,9,2123						5.8	1.0			86	31,8223		0,31,4096	no	frameshift	MYO6	NM_004999.3		0,40,6219	A1A1,A1R,RR		0.3756,0.2111,0.3195				40,12478				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599857_76599858insA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2751dupA	6.37:g.76599866_76599866dupA	ENSP00000358994:p.Lys915fs					MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs	p.QK914fs			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+		all_hematologic(105;0.189)	914					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	ENST00000369977.3	37	c.2742_2743insA	CCDS34487.1																																																																																				0.381	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		8	323						8	323	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		8	343						8	343	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102503431	102503432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:102503431_102503432insA	ENST00000421544.1	+	15	3028_3029	c.2538_2539insA	c.(2539-2541)aaafs	p.K847fs	GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K771fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K798fs|GRIK2_ENST00000369138.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K847fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	847					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TATACAAATCCAAAAAAAACGC	0.351																																						ENST00000369138.1																			2	Deletion - Frameshift(2)	p.N849fs*12(1)|p.N849fs*14(1)	lung(2)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2536-2541)tcaaaafs		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503431_102503432insA		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2546dupA	6.37:g.102503439_102503439dupA	ENSP00000397026:p.Lys847fs					GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs|GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs	p.SK846fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	3028_3029	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	846					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Ins	INS	ENST00000421544.1	37	c.2538_2539insA	CCDS5048.1																																																																																				0.351	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			32	484						32	484	---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109802729	109802729	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:109802729delT	ENST00000230122.3	-	2	668	c.501delA	c.(499-501)aaafs	p.K167fs		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	167					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATGTATTGACTTTTTTTGGTC	0.418																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(499-501)aafs		zinc finger and BTB domain containing 24							159.0	168.0	165.0					6																	109802729		2203	4300	6503	SO:0001589	frameshift_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802729delT	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.501delA	6.37:g.109802729delT	ENSP00000230122:p.Lys167fs						p.K167fs	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	668	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	167					Q17RC6|Q5TED5|Q8N455	Frame_Shift_Del	DEL	ENST00000230122.3	37	c.501delA	CCDS34509.1																																																																																				0.418	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		7	990						7	990	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	746						7	746	---	---	---	---
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	485						7	485	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135317	27135319	+	In_Frame_Del	DEL	TGG	TGG	-	rs2074398|rs587777901|rs544314279	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:27135317_27135319delTGG	ENST00000343060.4	-	1	274_276	c.213_215delCCA	c.(211-216)caccat>cat	p.71_72HH>H	HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.71_72HH>H|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	71	Poly-His.				abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ggggtggcgatggtggtggtggt	0.64											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(211-216)cat>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135317_27135319delTGG		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.213_215delCCA	7.37:g.27135326_27135328delTGG	ENSP00000343246:p.His72del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HH71del	p.HH71del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	274_276	-			71			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.213_215delCCA	CCDS5401.1																																																																																				0.640	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			10	448						10	448	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284901	38284902	+	RNA	DEL	TA	TA	-	rs200052170|rs370662429		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:38284901_38284902delTA	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										tgtgtgtgtgtatgtgtgtgtg	0.376																																						ENST00000436911.2																			0																																																			0							g.chr7:38284901_38284902delTA	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284901_38284902delTA														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.376	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		22	742						22	742	---	---	---	---
ZNF733P	643955	broad.mit.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C	rs373405087|rs368825314	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1				zinc finger protein 733, pseudogene																		GCATAGGGTTTTCTCTAGTATG	0.421													|||unknown(LONG_INSERTION)	63	0.0125799	0.0371	0.0	5008	,	,		19012	0.0109		0.003	False		,,,				2504	0.0					ENST00000331425.6																			0																																																			0							g.chr7:62752415_62752416insC			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752415_62752416insC								NR_003952.1						0	1019_1020	-									RNA	INS	ENST00000331425.6	37																																																																																						0.421	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			8	92						8	92	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		10	51						10	51	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72667736	72667736	+	RNA	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:72667736delT	ENST00000425256.1	-	0	633									GTF2I repeat domain containing 2 pseudogene 1																		CCAGACTGAAttttttttttc	0.378																																						ENST00000425256.1																			0																																																			0							g.chr7:72667736delT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72667736delT								NR_002164.1						0	633	-									RNA	DEL	ENST00000425256.1	37																																																																																						0.378	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		9	96						9	96	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:100281686_100281688delGCT	ENST00000275732.5	-	15	3032_3034	c.1823_1825delAGC	c.(1822-1827)cagctc>ctc	p.Q608del	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	608	Gln-rich.|Poly-Gln.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AATGCCGTGAGCTGCTGCTGCTG	0.69																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1822-1827)ctc>c		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100281686_100281688delGCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1823_1825delAGC	7.37:g.100281695_100281697delGCT	ENSP00000275732:p.Gln608del						p.QL608del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			15	3032_3034	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		608			Gln-rich.|Poly-Gln.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.1823_1825delAGC	CCDS34708.1																																																																																				0.690	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		10	195						10	195	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:100283635_100283637delTCC	ENST00000275732.5	-	9	2223_2225	c.1014_1016delGGA	c.(1012-1017)gaggaa>gaa	p.338_339EE>E	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	338	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCGGAAGGTTCCTCCTCCTCCT	0.675																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1012-1017)gaa>ga		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100283635_100283637delTCC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1014_1016delGGA	7.37:g.100283644_100283646delTCC	ENSP00000275732:p.Glu339del					GIGYF1_ENST00000471340.2_Intron	p.EE338del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			9	2223_2225	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		338			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.1014_1016delGGA	CCDS34708.1																																																																																				0.675	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	346						7	346	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151860794	151860794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:151860794delG	ENST00000262189.6	-	43	10086	c.9868delC	c.(9868-9870)ctafs	p.L3290fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.L3290fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3290	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTGGAATTAGGGGTGGCTGG	0.537																																						ENST00000355193.2																			0											c.(9868-9870)tafs		lysine (K)-specific methyltransferase 2C							153.0	127.0	136.0					7																	151860794		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151860794delG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9868delC	7.37:g.151860794delG	ENSP00000262189:p.Leu3290fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.L3290fs	p.L3290fs							43	10086	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.9868delC	CCDS5931.1																																																																																				0.537	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			90	358						90	358	---	---	---	---
XRCC2	7516	broad.mit.edu	37	7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)ttgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination																														ENST00000359321.1																			1	Insertion - Frameshift(1)	p.V118fs*5(1)	NS(1)	NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(349-351)tgfs	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							79.0	80.0	80.0					7																	152346220		2203	4300	6503	SO:0001589	frameshift_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346220delA	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.350delT	7.37:g.152346220delA	ENSP00000352271:p.Leu117fs					XRCC2_ENST00000495707.1_5'UTR	p.L117fs	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	435	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	117					B2R925	Frame_Shift_Del	DEL	ENST00000359321.1	37	c.350delT	CCDS5933.1																																																																																				0.393	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		8	559						8	559	---	---	---	---
NUGGC	389643	broad.mit.edu	37	8	27888776	27888776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:27888776delT	ENST00000413272.2	-	15	2034	c.1892delA	c.(1891-1893)aatfs	p.N631fs	NUGGC_ENST00000341513.6_Frame_Shift_Del_p.N631fs	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	631					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GATCAGGAAATTTTTTTTGCA	0.453																																						ENST00000413272.2																			0											c.(1891-1893)atfs		nuclear GTPase, germinal center associated							167.0	171.0	170.0					8																	27888776		1899	4103	6002	SO:0001589	frameshift_variant	389643							g.chr8:27888776delT	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1892delA	8.37:g.27888776delT	ENSP00000408697:p.Asn631fs					NUGGC_ENST00000341513.6_Frame_Shift_Del_p.N631fs	p.N631fs	NM_001010906.1	NP_001010906.1					15	2034	-								Q6ZP73	Frame_Shift_Del	DEL	ENST00000413272.2	37	c.1892delA	CCDS47833.1																																																																																				0.453	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		8	947						8	947	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	413						9	413	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:35608248delT	ENST00000404895.2	+	13	2412	c.2084delT	c.(2083-2085)gttfs	p.V695fs	UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000287272.2_Frame_Shift_Del_p.V626fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGTGGCGGTTTTTGGCTGC	0.488																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1876-1878)gtfs		unc-5 homolog D (C. elegans)							237.0	200.0	213.0					8																	35608248		2203	4300	6503	SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608248delT	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2084delT	8.37:g.35608248delT	ENSP00000385143:p.Val695fs					UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs	p.V626fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	1897	+			695			ZU5.		Q8WYP7	Frame_Shift_Del	DEL	ENST00000404895.2	37	c.1877delT	CCDS6093.2																																																																																				0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			9	876						9	876	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)ggfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		10	1795						10	1795	---	---	---	---
TERF1	7013	broad.mit.edu	37	8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:73921284_73921286delGAG	ENST00000276603.5	+	1	186_188	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_ENST00000276602.6_In_Frame_Del_p.E62del	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.65																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(163-165)del		telomeric repeat binding factor (NIMA-interacting) 1																																				SO:0001651	inframe_deletion	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73921284_73921286delGAG	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.163_165delGAG	8.37:g.73921293_73921295delGAG	ENSP00000276603:p.Glu62del					TERF1_ENST00000276603.5_In_Frame_Del_p.E62del	p.E62del	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		1	186_188	+	Breast(64;0.218)		62			Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Del	DEL	ENST00000276603.5	37	c.163_165delGAG	CCDS6211.1																																																																																				0.650	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		7	107						7	107	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124384893	124384893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:124384893delT	ENST00000287394.5	-	3	461	c.354delA	c.(352-354)aaafs	p.K118fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	118					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTGCTCTTCTTTTTTTTTAT	0.269																																						ENST00000287394.5																			1	Deletion - Frameshift(1)	p.E119fs*8(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(352-354)aafs		ATPase family, AAA domain containing 2							144.0	150.0	148.0					8																	124384893		2201	4297	6498	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124384893delT	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.354delA	8.37:g.124384893delT	ENSP00000287394:p.Lys118fs					ATAD2_ENST00000521903.1_5'UTR	p.K118fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	461	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		118					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.354delA	CCDS6343.1																																																																																				0.269	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		9	720						9	720	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143956378	143956380	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:143956378_143956380delGCA	ENST00000292427.4	-	8	1423_1425	c.1391_1393delTGC	c.(1390-1395)ctgcac>cac	p.L464del	CYP11B1_ENST00000377675.3_In_Frame_Del_p.L535del|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	464					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCACATGGTGCAGCAGCAGCAG	0.68									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1390-1395)cac>c		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)																																			SO:0001651	inframe_deletion	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956378_143956380delGCA	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1391_1393delTGC	8.37:g.143956387_143956389delGCA	ENSP00000292427:p.Leu464del					CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_In_Frame_Del_p.LH535del	p.LH464del	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			8	1423_1425	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		464					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	In_Frame_Del	DEL	ENST00000292427.4	37	c.1391_1393delTGC	CCDS6392.1																																																																																				0.680	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			8	538						8	538	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2746-2751)gaa>ga		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001651	inframe_deletion	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486026_94486028delTCC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2748_2750delGGA	9.37:g.94486035_94486037delTCC	ENSP00000364860:p.Glu917del					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.EE916del	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2946_2948	-			916					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	In_Frame_Del	DEL	ENST00000375708.3	37	c.2748_2750delGGA	CCDS6691.1																																																																																				0.645	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			10	506						10	506	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			9	60						9	60	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-	rs571278001|rs145591109		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:139734633_139734635delAGA	ENST00000311502.7	+	14	2194_2196	c.1958_1960delAGA	c.(1957-1962)gagaag>gag	p.K660del	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del|RABL6_ENST00000371675.3_In_Frame_Del_p.K545del			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	660	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCCTCTaaggagaagaagaagaa	0.571																																						ENST00000371675.3																			0											c.(1612-1617)gag>g		RAB, member RAS oncogene family-like 6			,	149,3501		4,141,1680					,	2.6	1.0		dbSNP_134	65	433,7429		12,409,3510	no	coding,coding	C9orf86	NM_024718.4,NM_001173988.1	,	16,550,5190	A1A1,A1R,RR		5.5075,4.0822,5.0556	,	,		582,10930				SO:0001651	inframe_deletion	55684							g.chr9:139734633_139734635delAGA	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1958_1960delAGA	9.37:g.139734642_139734644delAGA	ENSP00000311134:p.Lys660del					RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del	p.EK538del							14	2498_2500	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	In_Frame_Del	DEL	ENST00000311502.7	37	c.1613_1615delAGA	CCDS48058.1																																																																																				0.571	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		12	267						12	267	---	---	---	---
OLAH	55301	broad.mit.edu	37	10	15103848	15103848	+	Frame_Shift_Del	DEL	T	T	-	rs138615083	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:15103848delT	ENST00000378228.3	+	4	543	c.289delT	c.(289-291)tttfs	p.F98fs	OLAH_ENST00000378217.3_Frame_Shift_Del_p.F151fs	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	98					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						ACCATTTGCATTTTTTGGCCA	0.368																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(448-450)ttfs		oleoyl-ACP hydrolase							154.0	152.0	152.0					10																	15103848		2203	4300	6503	SO:0001589	frameshift_variant	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15103848delT	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.289delT	10.37:g.15103848delT	ENSP00000367473:p.Phe98fs					OLAH_ENST00000378228.3_Frame_Shift_Del_p.F98fs	p.F151fs	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			5	635	+			98					Q5VUB6|Q9NUW1	Frame_Shift_Del	DEL	ENST00000378228.3	37	c.448delT	CCDS31152.1																																																																																				0.368	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		8	1003						8	1003	---	---	---	---
LYZL1	84569	broad.mit.edu	37	10	29599965	29599965	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:29599965delA	ENST00000375500.3	+	5	619	c.562delA	c.(562-564)aaafs	p.K189fs		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	143					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GTCCGAGTGGAAAAAAGGCTG	0.512																																						ENST00000375500.3																			0				central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(562-564)aafs		lysozyme-like 1							204.0	196.0	199.0					10																	29599965		2203	4300	6503	SO:0001589	frameshift_variant	84569				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:29599965delA		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.562delA	10.37:g.29599965delA	ENSP00000364650:p.Lys189fs						p.K189fs	NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN			5	619	+		Breast(68;0.203)	143					Q5T921|Q8WW16	Frame_Shift_Del	DEL	ENST00000375500.3	37	c.562delA	CCDS31174.1																																																																																				0.512	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		7	1098						7	1098	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	CCT	-	rs4253047	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:50732139_50732141delCCT	ENST00000355832.5	-	5	1413_1415	c.1335_1337delAGG	c.(1333-1338)ggaggt>ggt	p.445_446GG>G	ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.445_446GG>G|PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.445_446GG>G|PGBD3_ENST00000603152.1_In_Frame_Del_p.445_446GG>G	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	445	Gly-rich.		G -> D (in dbSNP:rs4253047). {ECO:0000269|Ref.3}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1333-1338)ggt>gg	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6																																				SO:0001651	inframe_deletion	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50732139_50732141delCCT	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1335_1337delAGG	10.37:g.50732148_50732150delCCT	ENSP00000348089:p.Gly446del					ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del	p.GG445del	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			5	1413_1415	-			445			Gly-rich.		D3DX94|Q5W0L9	In_Frame_Del	DEL	ENST00000355832.5	37	c.1335_1337delAGG	CCDS7229.1																																																																																				0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		8	829						8	829	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828727	61828729	+	In_Frame_Del	DEL	GTG	GTG	-	rs368539157		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:61828727_61828729delGTG	ENST00000280772.2	-	37	12101_12103	c.11910_11912delCAC	c.(11908-11913)accact>act	p.3970_3971TT>T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3970	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						agtggtggtagtggtggtggtgg	0.468																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11908-11913)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828727_61828729delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11910_11912delCAC	10.37:g.61828736_61828738delGTG	ENSP00000280772:p.Thr3978del					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	p.TT3976del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12101_12103	-			3976			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11910_11912delCAC	CCDS7258.1																																																																																				0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		15	676						15	676	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:63852298delA	ENST00000279873.7	+	10	3486	c.3076delA	c.(3076-3078)aaafs	p.K1027fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTGCAGGGAAAAAGGCCCG	0.607																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3076-3078)aafs		AT rich interactive domain 5B (MRF1-like)							66.0	75.0	72.0					10																	63852298		2203	4300	6503	SO:0001589	frameshift_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852298delA	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3076delA	10.37:g.63852298delA	ENSP00000279873:p.Lys1027fs					ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	p.K1027fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3486	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1027					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Frame_Shift_Del	DEL	ENST00000279873.7	37	c.3076delA	CCDS31208.1																																																																																				0.607	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		9	908						9	908	---	---	---	---
ZNF503	84858	broad.mit.edu	37	10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-	rs533859340|rs374168185	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503-AS2_ENST00000425916.3_RNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718														484	0.0966454	0.3336	0.0331	5008	,	,		10238	0.0		0.006	False		,,,				2504	0.0143					ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(70-78)ggc>gg		zinc finger protein 503				455,1781		166,123,829						2.8	0.0		dbSNP_120	4	28,4994		4,20,2487	no	coding	ZNF503	NM_032772.4		170,143,3316	A1A1,A1R,RR		0.5575,20.3488,6.6547				483,6775				SO:0001651	inframe_deletion	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77161101_77161106delCCGCCT	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.72_77delAGGCGG	10.37:g.77161107_77161112delCCGCCT	ENSP00000361602:p.Gly26_Gly27del					ZNF503_ENST00000535216.1_In_Frame_Del_p.GGG24del	p.GGG24del	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			1	558_563	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		24			Gly-rich.		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	ENST00000372524.4	37	c.72_77delAGGCGG	CCDS7350.1																																																																																				0.718	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		11	14						11	14	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		14	946						14	946	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93247481	93247481	+	Frame_Shift_Del	DEL	A	A	-	rs57105282		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:93247481delA	ENST00000298068.5	+	11	1231	c.1137delA	c.(1135-1137)gcafs	p.A379fs	HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_Frame_Shift_Del_p.A29fs|HECTD2_ENST00000446394.1_Frame_Shift_Del_p.A383fs|HECTD2_ENST00000536715.1_Intron	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTGTAGCTGCAAAAAAAATCA	0.318																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(1147-1149)gcfs		HECT domain containing E3 ubiquitin protein ligase 2							93.0	97.0	96.0					10																	93247481		2203	4297	6500	SO:0001589	frameshift_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93247481delA	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1137delA	10.37:g.93247481delA	ENSP00000298068:p.Ala379fs					HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_Frame_Shift_Del_p.A29fs|HECTD2_ENST00000298068.5_Frame_Shift_Del_p.A379fs|HECTD2_ENST00000536715.1_Intron	p.A383fs			Q5U5R9	HECD2_HUMAN			12	1249	+			379					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Frame_Shift_Del	DEL	ENST00000298068.5	37	c.1149delA	CCDS7414.1																																																																																				0.318	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			7	592						7	592	---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																						ENST00000371627.4																			1	Deletion - Frameshift(1)	p.N622fs*29(1)	large_intestine(1)	biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(1855-1857)aaafs		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2																																				SO:0001589	frameshift_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93601945_93601946insA	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs						p.K619fs	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			16	2235_2236	+		Colorectal(252;0.162)	619					B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	ENST00000371627.4	37	c.1856_1857insA	CCDS7417.1																																																																																				0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		11	285						11	285	---	---	---	---
HELLS	3070	broad.mit.edu	37	10	96331163	96331163	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:96331163delA	ENST00000348459.5	+	7	559	c.454delA	c.(454-456)aaafs	p.K153fs	HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_Stop_Codon_Del|HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTCTGTGGCTAAAAAAAATAA	0.254																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(454-456)aafs		helicase, lymphoid-specific				26,4146		0,26,2060	39.0	45.0	43.0			1.2	1.0	10		43	22,8150		0,22,4064	no	frameshift	HELLS	NM_018063.3		0,48,6124	A1A1,A1R,RR		0.2692,0.6232,0.3889			96331163	48,12296	2162	4265	6427	SO:0001589	frameshift_variant	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96331163delA	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.454delA	10.37:g.96331163delA	ENSP00000239027:p.Lys153fs					HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394036.1_Stop_Codon_Del|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs	p.K153fs	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	7	559	+		Colorectal(252;0.0429)	153						Frame_Shift_Del	DEL	ENST00000348459.5	37	c.454delA	CCDS7434.1																																																																																				0.254	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		8	258						8	258	---	---	---	---
POLL	27343	broad.mit.edu	37	10	103345131	103345133	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:103345131_103345133delGGA	ENST00000370162.3	-	4	1007_1009	c.513_515delTCC	c.(511-516)cctccc>ccc	p.171_172PP>P	POLL_ENST00000456836.2_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.171_172PP>P|POLL_ENST00000299206.4_In_Frame_Del_p.171_172PP>P|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000370172.1_In_Frame_Del_p.83_84PP>P|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000339310.3_Intron|DPCD_ENST00000370151.4_5'Flank|DPCD_ENST00000370148.2_5'Flank|DPCD_ENST00000470165.1_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	171					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCCTGGTGGGAGGAGGAGGAG	0.591								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(511-516)ccc>cc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda			,,	22,4242		11,0,2121					,,	-0.9	0.0			149	45,8209		19,7,4101	no	coding,coding,coding	POLL	NM_013274.3,NM_001174085.1,NM_001174084.1	,,	30,7,6222	A1A1,A1R,RR		0.5452,0.5159,0.5352	,,	,,		67,12451				SO:0001651	inframe_deletion	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103345131_103345133delGGA	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.513_515delTCC	10.37:g.103345140_103345142delGGA	ENSP00000359181:p.Pro172del					POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|POLL_ENST00000370158.3_Intron|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|POLL_ENST00000339310.3_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron|DPCD_ENST00000416979.2_Intron	p.PP171del	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	4	1007_1009	-		Colorectal(252;0.234)	171					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	In_Frame_Del	DEL	ENST00000370162.3	37	c.513_515delTCC	CCDS7513.1																																																																																				0.591	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		7	471						7	471	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		8	1104						8	1104	---	---	---	---
AFAP1L2	84632	broad.mit.edu	37	10	116062107	116062107	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:116062107delT	ENST00000304129.4	-	12	1450	c.1421delA	c.(1420-1422)aacfs	p.N474fs	AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs|AFAP1L2_ENST00000491814.1_5'Flank|AFAP1L2_ENST00000369271.3_Frame_Shift_Del_p.N474fs			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	474					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAAGAGAGAGTTTTTGGCCGC	0.547																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1420-1422)acfs		actin filament associated protein 1-like 2							154.0	171.0	165.0					10																	116062107		2203	4300	6503	SO:0001589	frameshift_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062107delT	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1421delA	10.37:g.116062107delT	ENSP00000303042:p.Asn474fs					AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs|AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs	p.N474fs	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1721	-		Colorectal(252;0.175)|Breast(234;0.231)	474					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Frame_Shift_Del	DEL	ENST00000304129.4	37	c.1421delA	CCDS31286.1																																																																																				0.547	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		7	1098						7	1098	---	---	---	---
C10orf82	143379	broad.mit.edu	37	10	118424338	118424338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:118424338delT	ENST00000369210.3	-	4	449	c.395delA	c.(394-396)aacfs	p.N132fs	C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	132										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CTTGTAGCAGTTTTTGGCCAT	0.567																																						ENST00000369210.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(394-396)acfs		chromosome 10 open reading frame 82							158.0	140.0	146.0					10																	118424338		2203	4300	6503	SO:0001589	frameshift_variant	143379							g.chr10:118424338delT	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.395delA	10.37:g.118424338delT	ENSP00000358212:p.Asn132fs					C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	4	449	-			132					B3KUM9|D3DRC3	Frame_Shift_Del	DEL	ENST00000369210.3	37	c.395delA	CCDS7596.1																																																																																				0.567	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		7	884						7	884	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			7	557						7	557	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)aacfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(559-561)acfs		tripartite motif containing 21							211.0	212.0	212.0					11																	4409705		1950	4174	6124	SO:0001589	frameshift_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4409705delT	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.560delA	11.37:g.4409705delT	ENSP00000254436:p.Asn187fs					TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	4	672	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	187					Q5XPV5|Q96RF8	Frame_Shift_Del	DEL	ENST00000254436.7	37	c.560delA	CCDS44525.1																																																																																				0.483	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		8	1417						8	1417	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs370763825|rs145320037		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:6432090_6432092delTCC	ENST00000609360.1	-	2	585_587	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_ENST00000311051.3_In_Frame_Del_p.E162del|APBB1_ENST00000389906.2_In_Frame_Del_p.E162del|APBB1_ENST00000299402.6_In_Frame_Del_p.E162del	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.E162D(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(484-489)gat>ga		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001651	inframe_deletion	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432090_6432092delTCC	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486_488delGGA	11.37:g.6432099_6432101delTCC	ENSP00000477213:p.Glu162del					APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron	p.ED162del	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	585_587	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	162			Glu-rich.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	In_Frame_Del	DEL	ENST00000609360.1	37	c.486_488delGGA																																																																																					0.635	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		11	249						11	249	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1627	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		7	252						7	252	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Frame_Shift_Del	DEL	T	T	-	rs112181516		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:55861308delT	ENST00000302124.2	+	1	556	c.525delT	c.(523-525)catfs	p.H175fs		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443																																						ENST00000302124.2																			1	Insertion - Frameshift(1)	p.C178fs*2(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(523-525)cafs		olfactory receptor, family 8, subfamily I, member 2							154.0	146.0	149.0					11																	55861308		2201	4296	6497	SO:0001589	frameshift_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861308delT	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.525delT	11.37:g.55861308delT	ENSP00000303864:p.His175fs					OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs	p.H175fs			Q8N0Y5	OR8I2_HUMAN			1	556	+	Esophageal squamous(21;0.00693)		175					B2RNN4|Q6IFC0|Q96RC5	Frame_Shift_Del	DEL	ENST00000302124.2	37	c.525delT	CCDS31517.1																																																																																				0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		9	811						9	811	---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	-	A	rs369320979		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:75694430_75694431insA	ENST00000356136.3	+	8	940_941		c.e8-1		UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000539288.1_5'Flank|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated						DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.e8-1		UV radiation resistance associated																																				SO:0001630	splice_region_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75694430_75694431insA	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.700-1->A	11.37:g.75694440_75694440dupA						UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site		NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			8	940_941	+								B3KTC1|O00392	Splice_Site	INS	ENST00000356136.3	37		CCDS8241.1																																																																																				0.302	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	Intron	9	244						9	244	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs112457531|rs5794199|rs199886633|rs68192524		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAGGAACAAGTGGTGCCTAAG	0.416																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738793_102738794insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738794_102738794dupT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	727_728	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		7	58						7	58	---	---	---	---
CASP1	834	broad.mit.edu	37	11	104901070	104901070	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:104901070delT	ENST00000533400.1	-	5	649	c.614delA	c.(613-615)aatfs	p.N205fs	CASP1_ENST00000446369.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000593315.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000436863.3_Frame_Shift_Del_p.N205fs|CASP1_ENST00000526568.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000393136.4_Frame_Shift_Del_p.N184fs|CASP1_ENST00000598974.1_Frame_Shift_Del_p.N205fs|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000528974.1_Frame_Shift_Del_p.N166fs|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000525825.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000527979.1_Frame_Shift_Del_p.N168fs|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000594519.1_Frame_Shift_Del_p.N112fs	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	205					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.N205I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	AGCAGTGAGATTTTTTTTCAC	0.378																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			1	Substitution - Missense(1)	p.N205I(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(613-615)atfs		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						111.0	109.0	110.0					11																	104901070		2202	4299	6501	SO:0001589	frameshift_variant	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104901070delT	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.614delA	11.37:g.104901070delT	ENSP00000433138:p.Asn205fs					CASP1_ENST00000534497.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000527979.1_Frame_Shift_Del_p.N168fs|CASP1_ENST00000446369.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000593315.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000526568.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000528974.1_Frame_Shift_Del_p.N166fs|CASP1_ENST00000594519.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000525825.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000598974.1_Frame_Shift_Del_p.N205fs|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000436863.3_Frame_Shift_Del_p.N205fs|CASP1_ENST00000393136.4_Frame_Shift_Del_p.N184fs|CASP1_ENST00000415981.2_Intron	p.N205fs	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	5	649	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	205					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Frame_Shift_Del	DEL	ENST00000533400.1	37	c.614delA	CCDS8330.1																																																																																				0.378	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		7	678						7	678	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		8	474						8	474	---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122774816	122774816	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:122774816delA	ENST00000531316.1	+	2	620	c.528delA	c.(526-528)ggafs	p.G176fs	C11orf63_ENST00000307257.6_Frame_Shift_Del_p.G176fs|C11orf63_ENST00000227349.2_Frame_Shift_Del_p.G176fs			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	176					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCTCCGGGGGAAAAGGCGAGC	0.532																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(526-528)ggfs		chromosome 11 open reading frame 63							56.0	62.0	60.0					11																	122774816		2202	4299	6501	SO:0001589	frameshift_variant	79864							g.chr11:122774816delA	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.528delA	11.37:g.122774816delA	ENSP00000431669:p.Gly176fs					C11orf63_ENST00000531316.1_Frame_Shift_Del_p.G176fs|C11orf63_ENST00000307257.6_Frame_Shift_Del_p.G176fs	p.G176fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	825	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	176					A8K6G0|Q96GB5|Q9H5D6	Frame_Shift_Del	DEL	ENST00000531316.1	37	c.528delA	CCDS8438.1																																																																																				0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		10	676						10	676	---	---	---	---
YBX3	8531	broad.mit.edu	37	12	10862578	10862579	+	Frame_Shift_Ins	INS	-	-	C	rs201350858|rs377551329		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:10862578_10862579insC	ENST00000228251.4	-	6	908_909	c.708_709insG	c.(706-711)cggttcfs	p.F237fs	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Intron	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	237					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										TAAGGCGGGAACCGCCGCTGCC	0.589																																						ENST00000228251.4																			0											c.(706-711)cgtcccfs		Y box binding protein 3																																				SO:0001589	frameshift_variant	8531							g.chr12:10862578_10862579insC	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.709dupG	12.37:g.10862580_10862580dupC	ENSP00000228251:p.Phe237fs					YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	p.P237fs	NM_003651.4	NP_003642.3					6	908_909	-								B2RBW6|Q14121|Q969N6|Q96B76	Frame_Shift_Ins	INS	ENST00000228251.4	37	c.708_709insG	CCDS8630.1																																																																																				0.589	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		7	264						7	264	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		8	551						8	551	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs398102300|rs75456529	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)tttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													|||unknown(NO_COVERAGE)	81	0.0161741	0.0	0.0	5008	,	,		20060	0.0724		0.002	False		,,,				2504	0.0061					ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(298-300)ttfs		olfactory receptor, family 6, subfamily C, member 75				2,4262		0,2,2130	132.0	126.0	128.0			-5.1	0.0	12	dbSNP_131	128	4,8250		0,4,4123	no	frameshift	OR6C75	NM_001005497.1		0,6,6253	A1A1,A1R,RR		0.0485,0.0469,0.0479			55759192	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759192delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.298delT	12.37:g.55759192delT	ENSP00000368987:p.Phe102fs						p.F102fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	298	+			102						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.298delT	CCDS31820.1																																																																																				0.438	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			8	560						8	560	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:56558379_56558381delAGG	ENST00000267064.4	-	27	3360_3362	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_In_Frame_Del_p.P1123del	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3367-3369)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001651	inframe_deletion	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558379_56558381delAGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3274_3276delCCT	12.37:g.56558388_56558390delAGG	ENSP00000267064:p.Pro1092del					SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	p.P1123del			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3381_3383	-			1092	HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).		Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	In_Frame_Del	DEL	ENST00000267064.4	37	c.3367_3369delCCT	CCDS8907.1																																																																																				0.591	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			10	176						10	176	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000535720.1_RNA|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		11	714						11	714	---	---	---	---
VPS37B	79720	broad.mit.edu	37	12	123351892	123351892	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:123351892delG	ENST00000267202.2	-	4	1010	c.629delC	c.(628-630)ccafs	p.P213fs	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	213	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)		p.P211fs*>76(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGGGGGTGGTGGGGGGGGGAT	0.716																																						ENST00000267202.2																			1	Insertion - Frameshift(1)	p.P211fs*>76(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(628-630)cafs		vacuolar protein sorting 37 homolog B (S. cerevisiae)				71,200,3595		4,0,63,8,184,1674	8.0	10.0	9.0			-9.5	0.0	12		9	91,347,7060		7,0,77,16,315,3334	no	codingComplex	VPS37B	NM_024667.2		11,0,140,24,499,5008	A1A1,A1A2,A1R,A2A2,A2R,RR		5.8416,7.0098,6.239			123351892	162,547,10655	2086	4079	6165	SO:0001589	frameshift_variant	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123351892delG	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.629delC	12.37:g.123351892delG	ENSP00000267202:p.Pro213fs						p.P213fs	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	4	1010	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		213			Pro-rich.			Frame_Shift_Del	DEL	ENST00000267202.2	37	c.629delC	CCDS9239.1																																																																																				0.716	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		7	117						7	117	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-	rs376470858		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)gagdel	p.E168del	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.69																																						ENST00000308736.2																			3	Deletion - In frame(3)	p.E168delE(3)	breast(2)|prostate(1)	breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(502-504)del		DEAH (Asp-Glu-Ala-His) box polypeptide 37																																				SO:0001651	inframe_deletion	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465270_125465272delCTC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.502_504delGAG	12.37:g.125465279_125465281delCTC	ENSP00000311135:p.Glu168del						p.E168del	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	600_602	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		168					Q9BUI7|Q9P211	In_Frame_Del	DEL	ENST00000308736.2	37	c.502_504delGAG	CCDS9261.1																																																																																				0.690	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		7	50						7	50	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		10	744						10	744	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			14	23						14	23	---	---	---	---
WASF3	10810	broad.mit.edu	37	13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475																																						ENST00000335327.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.e7+1		WAS protein family, member 3																																				SO:0001630	splice_region_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27250862_27250863delGT	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.716+1GT>-	13.37:g.27250872_27250873delGT						WASF3_ENST00000361042.4_Intron		NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	894	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)						O94974|Q86VQ2	Splice_Site	DEL	ENST00000335327.5	37		CCDS9318.1																																																																																				0.475	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		Intron	8	319						8	319	---	---	---	---
WASF3	10810	broad.mit.edu	37	13	27255386	27255387	+	Frame_Shift_Ins	INS	-	-	C	rs529756888|rs141429361	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:27255386_27255387insC	ENST00000335327.5	+	8	1090_1091	c.912_913insC	c.(913-915)cccfs	p.P305fs	WASF3_ENST00000361042.4_Frame_Shift_Ins_p.P302fs	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	305	Poly-Pro.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGCAGCCGCCCCCCCCGCC	0.678																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(901-906)ccccccfs		WAS protein family, member 3				82,4062		3,76,1993						-6.7	0.1			31	128,8010		7,114,3948	no	frameshift	WASF3	NM_006646.5		10,190,5941	A1A1,A1R,RR		1.5729,1.9788,1.7098				210,12072				SO:0001589	frameshift_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255386_27255387insC	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.920dupC	13.37:g.27255394_27255394dupC	ENSP00000335055:p.Pro305fs					WASF3_ENST00000335327.5_Frame_Shift_Ins_p.PP304fs	p.PP301fs			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	1128_1129	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	304					O94974|Q86VQ2	Frame_Shift_Ins	INS	ENST00000335327.5	37	c.903_904insC	CCDS9318.1																																																																																				0.678	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			8	421						8	421	---	---	---	---
COG3	83548	broad.mit.edu	37	13	46054424	46054425	+	Splice_Site	INS	-	-	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:46054424_46054425insG	ENST00000349995.5	+	4	660_661	c.548_549insG	c.(547-552)cagtcg>caGgtcg	p.S184fs		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	184					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTAAAAGAACAGGTAATTTGGA	0.332																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.e4+1		component of oligomeric golgi complex 3																																				SO:0001630	splice_region_variant	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46054424_46054425insG	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.549+1->G	13.37:g.46054426_46054426dupG							p.L183_splice	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	4	660_661	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	183					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Splice_Site	INS	ENST00000349995.5	37	c.549_splice	CCDS9398.1																																																																																				0.332	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2		Frame_Shift_Ins	85	217						85	217	---	---	---	---
EBPL	84650	broad.mit.edu	37	13	50235209	50235209	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:50235209delA	ENST00000242827.6	-	4	566	c.516delT	c.(514-516)tttfs	p.F172fs	EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_Stop_Codon_Del	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	172					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.F172fs*7(1)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		ACACACCGTTAAAAAAAAACA	0.483																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6																			1	Deletion - Frameshift(1)	p.F172fs*7(1)	ovary(1)	endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(514-516)ttfs		emopamil binding protein-like				2,15,4247		0,0,2,0,15,2115	58.0	56.0	57.0			5.6	1.0	13		59	9,28,8217		0,0,9,2,24,4092	no	codingComplex	EBPL	NM_032565.3		0,0,11,2,39,6207	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4483,0.3987,0.4314			50235209	11,43,12464	2203	4300	6503	SO:0001589	frameshift_variant	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50235209delA	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.516delT	13.37:g.50235209delA	ENSP00000242827:p.Phe172fs					EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_Stop_Codon_Del|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR	p.F172fs	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	4	566	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	172					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Frame_Shift_Del	DEL	ENST00000242827.6	37	c.516delT	CCDS9420.1																																																																																				0.483	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		13	334						13	334	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA	rs202177940		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086382_20086383insAAAA																													14.37:g.20086387_20086390dupAAAA														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			9	91						9	91	---	---	---	---
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	lincRNA	INS	-	-	GTCCC	rs60511353|rs536110028	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225				RP11-597A11.1_ENST00000548261.1_RNA																							CCAACTCAGCAGAACAGTGTCA	0.505														1248	0.249201	0.3147	0.3775	5008	,	,		16134	0.1438		0.2396	False		,,,				2504	0.1881					ENST00000555580.1																			0																																																			0							g.chr14:20146543_20146544insGTCCC																													14.37:g.20146543_20146544insGTCCC														0	225	-									RNA	INS	ENST00000555580.1	37																																																																																						0.505	RP11-597A11.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409767.1			7	35						7	35	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000555731.1_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs|CMTM5_ENST00000339180.4_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			10	570						10	570	---	---	---	---
DAAM1	23002	broad.mit.edu	37	14	59787235	59787237	+	In_Frame_Del	DEL	GAA	GAA	-	rs141935137		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:59787235_59787237delGAA	ENST00000395125.1	+	4	396_398	c.373_375delGAA	c.(373-375)gaadel	p.E129del	DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	129	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTAGAGAAGGAAGAAGAAGAAG	0.325																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(373-375)del		dishevelled associated activator of morphogenesis 1																																				SO:0001651	inframe_deletion	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59787235_59787237delGAA	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.373_375delGAA	14.37:g.59787244_59787246delGAA	ENSP00000378557:p.Glu129del					DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del|DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del	p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	4	396_398	+			129			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	In_Frame_Del	DEL	ENST00000395125.1	37	c.373_375delGAA	CCDS9737.1																																																																																				0.325	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		7	303						7	303	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514603	75514604	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:75514603_75514604insT	ENST00000556740.1	-	1	1790_1791	c.1755_1756insA	c.(1753-1758)aaagaafs	p.E586fs	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	586					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTGCTAGATTCTTTTTTTTTCT	0.356								Mismatch excision repair (MMR)																														ENST00000355774.2																			3	Deletion - In frame(2)|Substitution - Nonsense(1)	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)	breast(2)|large_intestine(1)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1753-1758)aaaatcfs	Mismatch excision repair (MMR)	mutL homolog 3																																				SO:0001589	frameshift_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514603_75514604insT	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1756dupA	14.37:g.75514612_75514612dupT	ENSP00000452316:p.Glu586fs					MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs	p.I586fs	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1970_1971	-			586					P49751|Q56DK9|Q9P292|Q9UHC0	Frame_Shift_Ins	INS	ENST00000556740.1	37	c.1755_1756insA	CCDS32123.1																																																																																				0.356	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		14	496						14	496	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		8	618						8	618	---	---	---	---
IGHV3-11	28450	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	ACC	-	rs2003432|rs367875175	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:106573362_106573364delACC	ENST00000390601.2	-	0	339_341									immunoglobulin heavy variable 3-11 (gene/pseudogene)																		ATATGGTACTACCACTACTACTA	0.522																																						ENST00000390601.2																			0																																																			0							g.chr14:106573362_106573364delACC	M99652		14q32.33	2012-02-08	2008-09-12		ENSG00000211941	ENSG00000211941		"""Immunoglobulins / IGH locus"""	5580	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-11"""				Standard	NG_001019		Approved				OTTHUMG00000152277		14.37:g.106573362_106573364delACC														0	339_341	-									RNA	DEL	ENST00000390601.2	37																																																																																						0.522	IGHV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325665.1	NG_001019		8	1255						8	1255	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709778	22709779	+	RNA	DEL	TC	TC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:22709778_22709779delTC	ENST00000314246.8	-	0	1069				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CATGCTACCATCTCTCTCTCTG	0.535																																						ENST00000314246.8																			0																																																			0							g.chr15:22709778_22709779delTC			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709786_22709787delTC														0	1069	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.535	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		7	909						7	909	---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23021237	23021238	+	Frame_Shift_Ins	INS	-	-	T	rs145147241|rs7170838	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:23021237_23021238insT	ENST00000337451.3	-	4	711_712	c.99_100insA	c.(97-102)aagggcfs	p.G34fs	NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000559571.1_5'Flank|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.G34fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	34						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CGAAGGAGGCCCTTTTTTTTCA	0.446																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(97-102)aagcctfs		non imprinted in Prader-Willi/Angelman syndrome 2																																				SO:0001589	frameshift_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23021237_23021238insT	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.99_100insA	15.37:g.23021237_23021238insT	ENSP00000337618:p.Gly34fs					NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.P34fs	p.P34fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	4	711_712	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	34					F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Ins	INS	ENST00000337451.3	37	c.99_100insA	CCDS10010.1																																																																																				0.446	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		7	583						7	583	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28927411	28927415	+	RNA	DEL	AGGGA	AGGGA	-	rs201334001	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:28927411_28927415delAGGGA	ENST00000528584.1	+	0	1811					NR_036443.1				hect domain and RLD 2 pseudogene 9																		GTTTAAAAATagggaagggaaggga	0.463														2365	0.472244	0.6921	0.4539	5008	,	,		14215	0.753		0.1183	False		,,,				2504	0.2628					ENST00000528584.1																			0																																																			0							g.chr15:28927411_28927415delAGGGA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28927421_28927425delAGGGA								NR_036443.1						0	1811	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.463	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		8	8						8	8	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		13	1028						13	1028	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-	rs370141395		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000260364.5_In_Frame_Del_p.L362del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|RP11-809H16.4_ENST00000559495.1_RNA	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		10	914						10	914	---	---	---	---
RP11-24M17.5	0	broad.mit.edu	37	15	76075101	76075102	+	RNA	INS	-	-	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:76075101_76075102insT	ENST00000395215.3	+	0	800				RN7SL319P_ENST00000480656.2_RNA																							CAAGAGGAGGGTTTTTTTTGGA	0.569																																						ENST00000395215.3																			0																																																			0							g.chr15:76075101_76075102insT																													15.37:g.76075109_76075109dupT														0	800	+									RNA	INS	ENST00000395215.3	37																																																																																						0.569	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			7	118						7	118	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			12	150						12	150	---	---	---	---
ZNF174	7727	broad.mit.edu	37	16	3452111	3452111	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:3452111delA	ENST00000268655.4	+	1	692	c.107delA	c.(106-108)caafs	p.Q36fs	ZSCAN32_ENST00000396852.4_5'Flank|ZSCAN32_ENST00000304926.3_5'Flank|ZSCAN32_ENST00000422427.2_5'Flank|ZSCAN32_ENST00000439568.2_5'Flank|ZNF174_ENST00000572544.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000571936.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000575752.1_Frame_Shift_Del_p.Q36fs|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000344823.5_Frame_Shift_Del_p.Q36fs	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	36					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCTCCTCTGCAAAAAAACTGC	0.502																																						ENST00000268655.4																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(106-108)cafs		zinc finger protein 174							146.0	165.0	159.0					16																	3452111		2197	4300	6497	SO:0001589	frameshift_variant	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452111delA	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.107delA	16.37:g.3452111delA	ENSP00000268655:p.Gln36fs					ZNF174_ENST00000344823.5_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000571936.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000572544.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000575752.1_Frame_Shift_Del_p.Q36fs|LA16c-306E5.2_ENST00000575785.1_RNA	p.Q36fs	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN			1	692	+			36					Q53Y68|Q9BQ34	Frame_Shift_Del	DEL	ENST00000268655.4	37	c.107delA	CCDS10504.1																																																																																				0.502	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		9	1599						9	1599	---	---	---	---
NAGPA	51172	broad.mit.edu	37	16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cgcfs	p.R46fs	NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA|ALG1_ENST00000588623.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCGGGGGAGGCGCGCGCGCGC	0.767																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(136-138)cfs		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)			96,2314		9,78,1118						-9.7	0.0			9	252,5272		19,214,2529	no	frameshift	NAGPA	NM_016256.3		28,292,3647	A1A1,A1R,RR		4.5619,3.9834,4.3862				348,7586				SO:0001589	frameshift_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083678_5083679delGC	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.137_138delGC	16.37:g.5083688_5083689delGC	ENSP00000310998:p.Arg46fs					RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR	p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	156_157	-			46					B2RAS1|Q96EJ8	Frame_Shift_Del	DEL	ENST00000312251.3	37	c.137_138delGC	CCDS10527.1																																																																																				0.767	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		8	207						8	207	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		7	799						7	799	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:19580800_19580802delTCC	ENST00000251143.5	+	3	184_186	c.172_174delTCC	c.(172-174)tccdel	p.S64del	C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000438132.3_In_Frame_Del_p.S153del			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	64	Ser-rich.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(439-441)del		chromosome 16 open reading frame 62																																				SO:0001651	inframe_deletion	57020					integral to membrane		g.chr16:19580800_19580802delTCC		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.172_174delTCC	16.37:g.19580809_19580811delTCC	ENSP00000251143:p.Ser64del					C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del	p.S153del	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			3	487_489	+			64					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	In_Frame_Del	DEL	ENST00000251143.5	37	c.439_441delTCC																																																																																					0.562	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		9	408						9	408	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		11	1418						11	1418	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs371932459|rs144931984|rs149686515		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TAAATGaaaataaaaaaataaa	0.302																																						ENST00000546471.1																			0																																																			0							g.chr16:21817398_21817399insA			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817405_21817405dupA														0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.302	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		8	27						8	27	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)gagdel	p.E376del	IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1114-1116)del		interleukin 4 receptor																																				SO:0001651	inframe_deletion	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373787_27373789delGAG	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1114_1116delGAG	16.37:g.27373796_27373798delGAG	ENSP00000379111:p.Glu376del					IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del	p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1373_1375	+			376			Poly-Glu.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	In_Frame_Del	DEL	ENST00000395762.2	37	c.1114_1116delGAG	CCDS10629.1																																																																																				0.591	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			10	406						10	406	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(169-174)ggg>g		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	345_347	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		15	1795						15	1795	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-	rs531337171|rs569719496	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		10	460						10	460	---	---	---	---
RP11-67H24.2	0	broad.mit.edu	37	16	32823636	32823637	+	lincRNA	INS	-	-	C	rs112857933		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:32823636_32823637insC	ENST00000569859.1	+	0	373																											TTGCTGGAGTGGATGTGACAGG	0.495																																						ENST00000569859.1																			0																																																			0							g.chr16:32823636_32823637insC																													16.37:g.32823636_32823637insC														0	373	+									RNA	INS	ENST00000569859.1	37																																																																																						0.495	RP11-67H24.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432377.1			15	361						15	361	---	---	---	---
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																						ENST00000565421.1																			0																																																			0							g.chr16:53404542_53404543insA																													16.37:g.53404545_53404545dupA														0	410	-									RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			18	220						18	220	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5																			1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gct>g		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del					ZFHX3_ENST00000397992.5_Intron	p.VA777del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		14	627						14	627	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		7	472						7	472	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		11	184						11	184	---	---	---	---
AC005863.1	0	broad.mit.edu	37	17	14673542	14673543	+	lincRNA	INS	-	-	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:14673542_14673543insT	ENST00000379640.1	-	0	354_355																											GCTGGTCCCAGTTTTTTTTTCT	0.45																																						ENST00000379640.1																			0																	4,4260		0,4,2128						0.2	0.0			65	15,8239		0,15,4112	no	intergenic				0,19,6240	A1A1,A1R,RR		0.1817,0.0938,0.1518				19,12499						0							g.chr17:14673542_14673543insT																													17.37:g.14673551_14673551dupT														0	354_355	-									RNA	INS	ENST00000379640.1	37																																																																																						0.450	AC005863.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000130001.1			7	198						7	198	---	---	---	---
GIT1	28964	broad.mit.edu	37	17	27903281	27903281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:27903281delG	ENST00000225394.3	-	14	1816	c.1568delC	c.(1567-1569)cctfs	p.P523fs	GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	523					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CTCGTCCCCAGGGGGGCCCCC	0.652																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1567-1569)ctfs		G protein-coupled receptor kinase interacting ArfGAP 1							63.0	71.0	68.0					17																	27903281		2203	4300	6503	SO:0001589	frameshift_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903281delG	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1568delC	17.37:g.27903281delG	ENSP00000225394:p.Pro523fs					GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs	p.P523fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	14	1816	-			523					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Frame_Shift_Del	DEL	ENST00000225394.3	37	c.1568delC	CCDS11250.1																																																																																				0.652	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		7	862						7	862	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		9	402						9	402	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			22	43						22	43	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61899126	61899126	+	IGR	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:61899126delT	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Frame_Shift_Del_p.K518fs	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CAGTACTGCCTTTTCCTCCAG	0.527																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1552-1554)agfs		FtsJ homolog 3 (E. coli)							277.0	214.0	235.0					17																	61899126		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899126delT	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899126delT							p.K518fs	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2198	-			518					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Frame_Shift_Del	DEL	ENST00000578681.1	37	c.1553delA	CCDS32704.1																																																																																				0.527	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		7	1320						7	1320	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65940454	65940456	+	In_Frame_Del	DEL	CAC	CAC	-	rs143937013		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:65940454_65940456delCAC	ENST00000321892.4	+	22	7105_7107	c.7044_7046delCAC	c.(7042-7047)agcacc>agc	p.T2353del	BPTF_ENST00000335221.5_In_Frame_Del_p.T2353del|BPTF_ENST00000306378.6_In_Frame_Del_p.T2227del|BPTF_ENST00000424123.3_In_Frame_Del_p.T2214del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2353	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACAGCCAGCACCACCACCACC	0.542																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7042-7047)agc>ag		bromodomain PHD finger transcription factor																																				SO:0001651	inframe_deletion	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65940454_65940456delCAC	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7044_7046delCAC	17.37:g.65940463_65940465delCAC	ENSP00000315454:p.Thr2353del					BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del|BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del	p.ST2348del			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		22	7105_7107	+	all_cancers(12;6e-11)		2348			Thr-rich.		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Del	DEL	ENST00000321892.4	37	c.7044_7046delCAC																																																																																					0.542	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	691						7	691	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-	rs376314569|rs368840037		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:66141017delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAGATTTCTACAAAAAAAAAA	0.323																																						ENST00000590019.1																			0																																																			0							g.chr17:66141017delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141017delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.323	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			12	254						12	254	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	GTG	-	rs3833850		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:77808241_77808243delGTG	ENST00000269397.4	-	5	1375_1377	c.1198_1200delCAC	c.(1198-1200)cacdel	p.H400del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.|Poly-His.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704																																						ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(1198-1200)del		chromobox homolog 4																																				SO:0001651	inframe_deletion	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808241_77808243delGTG	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1198_1200delCAC	17.37:g.77808250_77808252delGTG	ENSP00000269397:p.His400del						p.H400del	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1375_1377	-			400			His-rich.|Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	In_Frame_Del	DEL	ENST00000269397.4	37	c.1198_1200delCAC	CCDS32758.1																																																																																				0.704	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		7	94						7	94	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			7	139						7	139	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		9	305						9	305	---	---	---	---
FAM210A	125228	broad.mit.edu	37	18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)aagfs	p.K109fs	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433																																						ENST00000322247.3																			1	Deletion - Frameshift(1)	p.K109fs*29(1)	large_intestine(1)								c.(325-327)agfs		family with sequence similarity 210, member A																																				SO:0001589	frameshift_variant	125228					integral to membrane		g.chr18:13681751delT	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.326delA	18.37:g.13681751delT	ENSP00000323635:p.Lys109fs					FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			3	713	-			109					D3DUJ4	Frame_Shift_Del	DEL	ENST00000322247.3	37	c.326delA	CCDS11866.1																																																																																				0.433	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		7	999						7	999	---	---	---	---
HDGFRP2	84717	broad.mit.edu	37	19	4491823	4491824	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:4491823_4491824insA	ENST00000301284.4	+	6	733_734	c.669_670insA	c.(670-672)aaafs	p.K224fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Ins_p.K224fs	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		224	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TGGGGGGACGGAAAAAAAAGGT	0.634																																						ENST00000301284.4																			0											c.(667-672)cgaaaafs																																						SO:0001589	frameshift_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4491823_4491824insA																												ENST00000301284.4:c.677dupA	19.37:g.4491831_4491831dupA	ENSP00000301284:p.Lys224fs					HDGFRP2_ENST00000586684.1_Frame_Shift_Ins_p.RK223fs	p.RK223fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			6	733_734	+			223			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Frame_Shift_Ins	INS	ENST00000301284.4	37	c.669_670insA	CCDS42472.1																																																																																				0.634	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			7	430						7	430	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		13	326						13	326	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	1649						7	1649	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			12	1519						12	1519	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36583666_36583668delGCA	ENST00000270301.7	+	19	2286_2288	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_ENST00000401500.2_In_Frame_Del_p.Q766del			O43379	WDR62_HUMAN	WD repeat domain 62	766					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2284-2289)cgg>cg		WD repeat domain 62																																				SO:0001651	inframe_deletion	284403				cerebral cortex development	nucleus		g.chr19:36583666_36583668delGCA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2286_2288delGCA	19.37:g.36583675_36583677delGCA	ENSP00000270301:p.Gln766del					WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2321_2323	+	Esophageal squamous(110;0.162)		762					Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Del	DEL	ENST00000270301.7	37	c.2286_2288delGCA	CCDS33001.1																																																																																				0.616	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		9	866						9	866	---	---	---	---
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)del		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	201_203	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		9	537						9	537	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		12	732						12	732	---	---	---	---
GIPR	2696	broad.mit.edu	37	19	46172779	46172780	+	Start_Codon_Ins	INS	-	-	TGACTACCT	rs561664397	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:46172779_46172780insTGACTACCT	ENST00000590918.1	+	0	100_101				GIPR_ENST00000263281.3_Start_Codon_Ins|GIPR_ENST00000304207.8_Start_Codon_Ins	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor						activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CGCCCTCACGATGACTACCTCT	0.663														5	0.000998403	0.0038	0.0	5008	,	,		16242	0.0		0.0	False		,,,				2504	0.0					ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12								gastric inhibitory polypeptide receptor				6,4234		1,4,2115						3.9	0.4			41	1,8233		0,1,4116	no	coding	GIPR	NM_000164.2		1,5,6231	A1A1,A1R,RR		0.0121,0.1415,0.0561				7,12467				SO:0001582	initiator_codon_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46172779_46172780insTGACTACCT		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.2_10dupTGACTACCT	19.37:g.46172780_46172788dupTGACTACCT						GIPR_ENST00000304207.8_Start_Codon_Ins|GIPR_ENST00000263281.3_Start_Codon_Ins		NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	0	100_101	+		Ovarian(192;0.051)|all_neural(266;0.112)						B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Translation_Start_Site	INS	ENST00000590918.1	37		CCDS12671.1																																																																																				0.663	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			10	30						10	30	---	---	---	---
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1180-1182)del		fuzzy planar cell polarity protein																																				SO:0001651	inframe_deletion	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310483_50310485delCAG	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180_1182delCTG	19.37:g.50310492_50310494delCAG	ENSP00000313309:p.Leu394del					FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron	p.L394del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1343_1345	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	394			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	In_Frame_Del	DEL	ENST00000313777.4	37	c.1180_1182delCTG	CCDS12781.1																																																																																				0.635	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		14	401						14	401	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			12	363						12	363	---	---	---	---
ZNF552	79818	broad.mit.edu	37	19	58319468	58319468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:58319468delT	ENST00000391701.1	-	3	1333	c.1164delA	c.(1162-1164)aaafs	p.K388fs	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1162-1164)aafs		zinc finger protein 552				4,4260		1,2,2129	147.0	143.0	144.0			2.0	0.0	19		144	2,8252		0,2,4125	no	frameshift	ZNF552	NM_024762.3		1,4,6254	A1A1,A1R,RR		0.0242,0.0938,0.0479			58319468	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319468delT	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1164delA	19.37:g.58319468delT	ENSP00000375582:p.Lys388fs					ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	p.K388fs	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1333	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	388					B3KUE9|Q6P5A6	Frame_Shift_Del	DEL	ENST00000391701.1	37	c.1164delA	CCDS12963.1																																																																																				0.413	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		8	791						8	791	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		10	654						10	654	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60895697	60895698	+	Frame_Shift_Ins	INS	-	-	G	rs2297587|rs200954467	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:60895697_60895698insG	ENST00000252999.3	-	50	6742_6743	c.6676_6677insC	c.(6676-6678)cgcfs	p.R2226fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2226	Domain II and I.		R -> H (in dbSNP:rs2297587).		angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGTCTCATGGCGGGGGCCCAGG	0.708																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6676-6678)ccafs		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60895697_60895698insG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6677dupC	20.37:g.60895702_60895702dupG	ENSP00000252999:p.Arg2226fs						p.P2226fs	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		50	6742_6743	-	Breast(26;1.57e-08)		2226		R -> H (in dbSNP:rs2297587).	Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Ins	INS	ENST00000252999.3	37	c.6676_6677insC	CCDS33502.1																																																																																				0.708	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		7	136						7	136	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61537401	61537402	+	Frame_Shift_Ins	INS	-	-	T	rs140153728		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:61537401_61537402insT	ENST00000266070.4	-	6	1750_1751	c.1425_1426insA	c.(1423-1428)aaagagfs	p.E476fs	DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.E476fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	476					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTGTGGTCTCTTTTTTTTCTG	0.49																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1423-1428)aaagacfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61537401_61537402insT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1426dupA	20.37:g.61537409_61537409dupT	ENSP00000266070:p.Glu476fs					DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs	p.D476fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			6	1750_1751	-	Breast(26;5.68e-08)		476					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.1425_1426insA	CCDS33506.1																																																																																				0.490	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		9	873						9	873	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	31						7	31	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			12	344						12	344	---	---	---	---
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		8	185						8	185	---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)cagctg>ctg	p.Q412del	HIRA_ENST00000340170.4_In_Frame_Del_p.Q412del|HIRA_ENST00000546308.1_In_Frame_Del_p.Q368del|HIRA_ENST00000541063.1_In_Frame_Del_p.Q368del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	412	Poly-Gln.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCTGGTCCAGCTGCTGCTGCTG	0.581																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1234-1239)ctg>c		histone cell cycle regulator																																				SO:0001651	inframe_deletion	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19373136_19373138delGCT	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1235_1237delAGC	22.37:g.19373145_19373147delGCT	ENSP00000263208:p.Gln412del					HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del	p.QL412del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			12	1491_1493	-	Colorectal(54;0.0993)		412			Poly-Gln.		Q05BU9|Q8IXN2	In_Frame_Del	DEL	ENST00000263208.5	37	c.1235_1237delAGC	CCDS13759.1																																																																																				0.581	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		7	420						7	420	---	---	---	---
IGLC3	3539	broad.mit.edu	37	22	23248852	23248852	+	RNA	DEL	A	A	-	rs71797740|rs200606818	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23248852delA	ENST00000390325.2	+	0	341				IGLJ3_ENST00000390324.2_RNA			P0CG06	LAC3_HUMAN	immunoglobulin lambda constant 3 (Kern-Oz+ marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CTCACCCCCCACCACGGGAGA	0.572													-|A|-|insertion	1080	0.215655	0.1271	0.2565	5008	,	,		20361	0.3879		0.0974	False		,,,				2504	0.2505					ENST00000390325.2																			0																	813,2575		63,687,944						-2.4	0.0		dbSNP_130	7	1378,5566		50,1278,2144	no	intergenic				113,1965,3088	A1A1,A1R,RR		19.8445,23.9965,21.206				2191,8141						0							g.chr22:23248852delA	J00254		22q11.2	2012-02-08			ENSG00000211679	ENSG00000211679		"""Immunoglobulins / IGL locus"""	5857	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG06	OTTHUMG00000151217		22.37:g.23248852delA														0	341	+								A0M8Q4|P80423	RNA	DEL	ENST00000390325.2	37																																																																																						0.572	IGLC3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321821.3	NG_000002		7	109						7	109	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-	rs375955867		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 11). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.65			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4048-4053)gcc>g		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36689419_36689421delCCT		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4049_4051delAGG	22.37:g.36689428_36689430delCCT	ENSP00000216181:p.Glu1350del						p.EA1350del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			30	4279_4281	-			1350	E -> EE (in Ref. 7).				A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.4049_4051delAGG	CCDS13927.1																																																																																				0.650	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		11	618						11	618	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		14	968						14	968	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcctcc>gcc	p.S589del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	589					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1759-1764)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120323_38120325delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1760_1762delCCT	22.37:g.38120326_38120328delCCT	ENSP00000384312:p.Ser589del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS587del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2015_2017	+	Melanoma(58;0.0574)		587					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1760_1762delCCT	CCDS43015.1																																																																																				0.596	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	1584						8	1584	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(895-897)atfs		ADP-ribosylation factor GTPase activating protein 3							317.0	285.0	296.0					22																	43213780		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43213780delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.896delA	22.37:g.43213780delT	ENSP00000263245:p.Asn299fs					ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	p.N299fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			10	1115	-			299					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.896delA	CCDS14042.1																																																																																				0.363	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		12	1076						12	1076	---	---	---	---
ZFX	7543	broad.mit.edu	37	X	24229134	24229134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:24229134delA	ENST00000379177.1	+	11	2486	c.2059delA	c.(2059-2061)aaafs	p.K688fs	ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	688					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CCACAAGGGCAAAAAAATGCA	0.428																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2059-2061)aafs		zinc finger protein, X-linked							121.0	110.0	114.0					X																	24229134		2203	4300	6503	SO:0001589	frameshift_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229134delA		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2059delA	X.37:g.24229134delA	ENSP00000368475:p.Lys688fs					ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs	p.K688fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2486	+			688					B9EG97|O43668|Q8WYJ8	Frame_Shift_Del	DEL	ENST00000379177.1	37	c.2059delA	CCDS14211.1																																																																																				0.428	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		7	748						7	748	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117.0	111.0	113.0					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		13	922						13	922	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		14	981						14	981	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107842050	107842050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:107842050delA	ENST00000361603.2	+	25	2142	c.1898delA	c.(1897-1899)gaafs	p.E633fs	COL4A5_ENST00000328300.6_Frame_Shift_Del_p.E633fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	633	Triple-helical region.		E -> K (in APSX). {ECO:0000269|PubMed:10561141}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGTAGGTGAAAAAGGCATA	0.507									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1897-1899)gafs		collagen, type IV, alpha 5							74.0	77.0	76.0					X																	107842050		2203	4300	6503	SO:0001589	frameshift_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107842050delA	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1898delA	X.37:g.107842050delA	ENSP00000354505:p.Glu633fs					COL4A5_ENST00000361603.2_Frame_Shift_Del_p.E633fs	p.E633fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			25	2142	+			633		E -> K (in APSX).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Del	DEL	ENST00000361603.2	37	c.1898delA	CCDS14543.1																																																																																				0.507	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			7	494						7	494	---	---	---	---
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-	rs374572591		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		7	518						7	518	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		9	473						9	473	---	---	---	---
